HIPS

Hip dyslpasia (abnormal development) or dislocation is one of the characteristics of one of Kabuki's cardinal manifestations (skeletal anomalies). According to published literature, 20-30+ percent have hip dysplasia or dislocation. Most have some sort of skeletal abnormality (which may include spinal anomalies, lax joints, scoliosis, shortened finger bones or dislocated hips, patellas, or other joints).

Almost every genetic article mentions hip dislocations, but there has not yet been any studies to specifically examine the possible causes. It's often mentioned that there is incomplete development of the acetabulum (the cup-shaped cavity in the lateral surface of the hipbone in which the head of the femur fits) and that the lax ligaments (ligaments attach bone to bone) may play a role. Some authors have speculated on whether it's due to a collagen (the main protein or part of connective tissue, skin, tendons, cartilage, and bone) alteration.

 

INFO ON THE WEB

http://www.drhull.com/EncyMaster/H/hip_dysplasia.html

http://www.aaos.org/wordhtml/anmeet89/scipro/ppr060.htm

http://www.chw.edu.au/parents/factsheets/developj.htm

 

PARENTS TO CONTACT REGARDING HIP DISLOCATIONS:

Skerker, Cathy & Larry

710 Le Brun Rd.

Eggertsville, New York 14226-4216

USA

Ph# 716-836-1190

Email: CSkerker@aol.com

Jacobi, Rose & Jonathan

4109 South West 328th St.

Federal Way, Washington 98023

USA

Ph# 253-874-1902

Email: RMJacobi@aol.com

Sutcliffe, Kevin

8 Enderby Close

Ovenden, Halifax HX3 5RR

UNITED KINGDOM

Ph# 01422-342-458 or Mobile ph# 07957-158-441

Email: k.sutcliffe@lineone.net OR kabuki.uk@lineone.net

 

FAMILY'S PAST DISCUSSIONS (VIA KSN's EMAIL MAILING LIST) ON HIP DISLOCATIONS

 

Message: 1

Date: Sat, 12 Jun 1999 19:25:25 -0700

[...] Everytime I think I know everything there is to know about

Nick something new comes up! (Like hip surgery in Oct and

suddenly his BUN is elevated so it's back to the

nephrologist in July).

------------------------------------

Message: 1

Date: Mon, 14 Jun 1999 08:46:06 EDT

We have been through three hip surgeries since 1994. The first was a femoral

and pelvic ostiotomy on the right hip. Then Liz had a slipped epiphisis on

the Left hip in 1996 and surgery to remove the left hip pin in 1997.[...]

--------------------------------------

Message: 1

Date: Tue, 15 Jun 1999 06:31:21 -0700

Last year we went to the orthopaedic surgeon because Nick

was walking with his feet out and rolled under slightly.

He didn't seem to think it was a big problem and gave him

mafos. But instead at that appt. he found a more serious

problem--a subluxed left hip is what he called it; I think

more commonly dislocated hip. Since Nick had just started

walking a few months before (at around his 2nd birthday) he

said we would let him weightbear on it and see if that

would help. We've been following it with xray every 6

months. In Nov. it was out 50%, at last check early June

it was up to 60%. He has a hip pillow that he is supposed

to sleep in that he doesn't like; with the threat of

surgery I am motivated to make him like it! I'm sure he

would prefer the pillow to being casted for 6 weeks! To

reason with him is impossible, even a normal 3 year old

would be hard to reason with!

--------------------------------------

Message: 3

Date: Tue, 15 Jun 1999 09:53:37 EDT

Liz was born with her hips not fully developed and wore something called a

Pavlik harness until she was almost a year old. It kept her in position so

the hips could continue developing properly (she was 5 weeks premature).

After this contraption, we went to an abduction splint for as many hours a

day as possible and at night. Her hips developed well and the ortho surgeon

continued to follow her. By age 10 she was developing arthritis and her

femor was beginning to wear away at the hip socket due to the contant rubbing

and griding. It was also becoming more painful for her and she was beginning

to develop what is called a Trendelenberg gait. It was MAJOR surgery. We

were fortunate to hook up with the pain management team who used an epidural

and kept her very comfortable. However, we discovered that she is allergic

to morphine and a drug called reglin (anti-nasuea). The morphine sent her

into ICU - increased respiration, increased pulse, low oxygen. I don't know

if this allergy is something that is common among those with Kabuki syndrome.

Has anyone else had any reactions to morphine?

--------------------------------------------

Message: 4

Date: Tue, 15 Jun 1999 13:46:59 EDT

My son Jonathan had bi-lateral osteotomies in 1995. He was in a body cast

for 6 weeks. He had no reaction to morphine whatsoever. He recieved a dose

every hour after the surgery for close to 24 hours. Two years prior to the

surgery he wore a brace which positioned his hips to try to align them

properly. Unfortunately, this had minimal success. He was 5 years old when

he had the surgery. We too were dreading the six weeks in a body cast, but

surprisingly he was a trooper. We were able to rent a hospital bed and a

reclining wheel chair to make him more comfortable. He loves to go fishing,

so we packed a lunch every day and parked his wheel chair on the dock and

fished from 9 am to 3 pm when we had to pick up his sister from school.

After that, we would just put him on the floor and sister and friends kept

him busy with board games etc. It's not so bad if you plan your days.

His physical therapist came to the house with a specially designed scooter

for him to get around the house on. It was difficult after the first week

but he got the hang of it. He also had a tutor and his speech therapist come

to the house for instruction.

So many of our kids are so used to medical problems being a part of their

lives that their reaction to things such as body casts are less reactive than

ours. We as parents tend to worry more than necessary. Just plan your days

and rally with friends and relatives and you'll both get through it.

-------------------------------------------------

Message: 8

Date: Tue, 15 Jun 1999 11:49:40 -0700

Kayla was born with both hips dislocated and one club foot. The ortho

doc used to cast her foot and on occasion would cast all the way up to

her hips. It helped the right hip, but not the other. That one has

given us trouble ever since. She has worn the seattle abduction, and

palvic harnest. KK went in for hip and foot surgery when she was 7

months. When they got her under they found out that her hip was better

than the x rays showed. So they did the foot, and casted her as if they

did the hip also ~ giving her a half body cast. It helped a little bit,

but she still continues to have a yearly check to see if it better. She

just recently went in for that appt. and the ortho said it's a little bit

better, but not bad enough to put her through that operation. And after

the cast came off, and that horrible rash she had(I will never forget

that one) she too wore AFO's to help with her feet placement. Which they

did.[...]

-----------------------------------

Message: 1

Date: Wed, 28 Jul 1999 09:41:22 EDT

I realized I ought to introduce myself and our family. I am Laura,

and my husband is Shane. We have 4 sons: Nathaniel is 8, Jonathan is 6,

Matthew is 4, and David is 2. Nathan was diagnosed with Kabuki Syndrome last

year.[...] He has

braces for his feet/ankles and for his knees. He's EXTREMELY low-tone, and

can pop nearly any joint out of place without even thinking about it. He's

rather like a piece of cooked spaghetti!.[...]

-----------------------------------

Message: 1

Date: Mon, 02 Aug 1999 15:33:37 -0700

[...] I was also interested in the problems with dislocated joints, etc. I had

thought this was something that happened to the children as they reached

their teens but I'm noticing younger children with the same problems.

Angie's ankles turn in slightly and she is very flat-footed but the

orthopedist said to give her time. She has hypotonia but I don't think

its to the extent that some of the children have. She runs, jumps and

climbs but I'm wondering if I need to be more careful in what I let her

do. Any thoughts on this?.[...]

-------------------------------------------

Message: 1

Date: 7 Aug 1999 22:11:29 -0000

I would like to introduce my little girl Ellen who is 10

months old and was diagnosed with Kabuki when she was about

4 months old as she has very unusual facial

features.........By the way my name is Julie and I'm

from Northern Ireland and Ellen is the youngest

of my five children.I've also noticed that Ellen's

joints grind on movemnt.Has anyone else experienced

this?.[...]

------------------------------------

Message: 1

Date: Tue, 10 Aug 1999 23:10:11 -0300

Some of my patients have congenital hip dislocation and almost all of them

were hypotonic. Just one (the youngest one) has stiffness of lower limbs. I

could read that there are some reported kids with joints dislocation

(specially, hips and patella). Some authors say that it's due to a kind of

collagen alteration.

I think you could set an appointment with an Orthopedist to see what is

going on with Ellen's joints. Some kids have facility to develop scoliosis

and physic therapy could be very helpful.[...]

Good luck,

Gisele Oliveira, M.D.

--------------------------------------------

Message: 2

Date: Mon, 13 Sep 1999 16:49:40 EDT

My name is Melody, mom to Klaudia who will be three sept. 25th. She went

to her Ped. today for her 3 year checkup and we had something come up. She

has to have a CT scan in the morning because her sutures maybe closing early.

She has had xrays every six months as a precaution because the back of her

head never rounded out very well, and about a year ago she developed slight

metopic ridging.

I thought this was a cosmetic condition, not medical. But I was told it

could hinder her brain growth. Is anyone familiar with this?

Also, Klaudia went from being in the 50th percentile in weight and height

to the 25th. Has this happened to anyone else? It seems like such a drastic

drop.

Any feedback would be appreciated.

------------------------------------------

Message: 1

Date: Wed, 15 Sep 1999 17:16:57 -0700 (PDT)

In a recent publication in the Journal of Pediatrics,

we reviewed 18 cases of Kabuki syndrome (J Pediatr

1999, vol. 134, p. 480-5). One of the patients also

developed metopic synostosis, or premature fusion of

the metopic suture at the midline forehead. She had a

surgical release of the suture for cosmetic reasons,

but this occurred after she was evaluated by our

clinic. I do not know how severe it was, and this

patient has moved from our area and is not in contact

with us. There are other patients who have signs of

Kabuki syndrome and have had other cranial sutures

fuse prematurely, but these are very rare, and we are

not sure if their diagnosis fits best with Kabuki

syndrome or another syndrome.

Sincerely,

Mark C. Hannibal, MD, PhD

Senior Medical Genetics Fellow

University of Washington

-----------------------------------------

Message: 2

Date: Thu, 16 Sep 1999 00:43:18 EDT

Dear Dr. Hannibal,

Thanks so much for your reply. The CT scan confirmed that Klaudia has three

sutures that are closed. We have an appointment with a neurosurgeon tomorrow.

From what I have read, the corrective procedure can be fairly complicated. I

am really afraid for my little girl.

In Klaudia's case, the metopic ridging is not a cosmetic problem at this

time; rather there is concern about her skull accommodating brain growth.

If surgery is suggested, could you please recommend someone for a second

opinion who has experience; Im in a "one horse town" so to speak.

From the list of registered families, there is one other child with metopic

ridging and also a few "odd" characteristics for Kabuki syndrome in common

with Klaudia; namely, those characteristics associated with Turner syndrome.

Turner was suspected at birth, but she tested negative. Are premature suture

closures also characteristic of Turner? Are you suggesting she may not have

Kabuki syndrome? Do you have something else in mind?

I will let you know what happens tommorrow.

Thanks again for your response, its greatly appreciated.

--------------------------------------------

Message: 1

Date: Thu, 16 Sep 1999 15:58:27 EDT

Klaudia's appointment with the Neurosurgeon went very well. She does not

have metopic ridging. He believes it is deep bruising from a fall she had.

She does have premature suture closure, specifically the coronal suture. He

does not think it will affect her brain growth. We did find out that the

reason Klaudia's head is flat is because her right cerebellum is somewhat

smaller than the left. He said that Klaudia's head is going to grow rounder

but stay flattened in the back, which is the way its growing now.

To be safe, he suggested a second opinion. We are scheduling at Childrens in

Dallas where Klaudia was diagnosed. I am just so relieved he didnt suggest

surgery. I am hopeful we will get the same opinion from the Dallas doc.

Many Thanks

-------------------------------------

Message: 1

Date: Tue, 21 Sep 1999 22:24:08 EDT

We went to Dallas Childrens Hospital today for our 2nd opinion. The

neurosurgeon believes Klaudia's sutures are OPEN, not fused at all. He

thought she was fine.[...]

-----------------------------------------

Sent: Thu, 23 Sep 1999 08:07:47 EDT

[...] We have had some more good news. Nicholas' orthopaedic

surgeon had scheduled hip surgery after seeing Nick in June.

(His left hip is subluxed; "out" 60% up from 50% last November.)

But after examening Nick last week surgery is on hold for at

least another six months because it stayed the same this time!

It would have been 6 weeks minimum in a cast abdomen to knees

for my very active little guy. We are so thankful.

--------------------------------------

Date: Thu Feb 3, 2000 9:44am

Hi, my name is Serena & I have a 5yr old son named Aaron with partial

trisomy 2 & partial monosomy 14 & Kabuki. I also have a daughter with

the same chrom. abn. but they have yet to dx. her eith Kabuki(she is 2yr).

As of late the orthopedist is concerned that he and possibly Allie have

a "tethered spinal cord". His left ft. has been turned so much he calls

it a metacrpis vergus?? his talus is completely shifted, he has a very

hard time walking & its getting worse daily. allie's left ft is also

turning ever so slightly yet it has gotten worse & this is exactly how

Aaron's started. Does anyone have a child with this problem?? We are in

the process of getting paper work done to have them both seen at the

Shriner's children's hospital in Montreal Canada.Any insight to this

would be greatly appreciated!

----------------------------------------

Date: Thu Feb 3, 2000 11:52am

That's interesting because both of my son's feet turn inward and downward,

but his problem was diagnosed by a PT. Maybe we should see an orthopedic dr.

Currently their working on making inserts for his shoes. Kinda like casts for

the feet so they will turn up correctly. We haven't gotten them yet, but I'm

sure it should be a battle for Chayce to get used to.

---------------------------------------------

Date: Thu Feb 3, 2000 2:57pm

My son Robert was born with a T-11 Hemi-vertebra. It was discovered

during an MRI. His orthopedist told me most people live their whole

lives with something like this and never know it. Our main concern

was the possible tethering of his spinal cord. Because of that Robert

went back annually for an MRI and Xray of his spine. At his last

check-up, the orthopedist lengthened his next visit until he was about

7 (he is now 4).

He did say, when tethering is involved you will see regression in his

abilities. That could mean either his motor skills or a lack of sensation

in bladder control, etc. Since Robert is still not potty trained, that is

a hard call. But, I have a sense that he can feel what is happening.

You might want to request an orthopedist to do an MRI of their spines to

get a better sense of what is happening there. Either way, it can't hurt

to check and will make you feel better knowing that you checked into it.

Sometimes you have to guide these doctors in the right direction. They

don't always have your child's best interests at heart.

---------------------------------------------------

Date: Thu Feb 3, 2000 3:12pm

Thanks for the message. I know what u mean about not being able to make a

good call due to not being potty trained yet. Aaron isn't either,but we've

also noticed he's becoming more & more constipated lately & he has always

had twitching & leg jerking mostly while asleep that all the drs. blew off.

He ha sin the last 6 mos. had 4 episodes of his legs giving out on him while

walking for no reason. We had mri done of his brain..nothing too significant

they said...to who?? And Aaron's walking is getting very poor. he never

walked the best but now he lifts his left leg & externally rotates it around

instead of any bending at the knee or ankle. We r having MRIs of the spinal

cord done on both kids.

thanks again.

-----------------------------------------------

Date: Fri Feb 4, 2000 8:19am

To add another 2 cents, my son Nicholas' feet have always rolled under and

out. And the PT's also started commenting on it when he was about 21 months

old and taking his first steps. We were sent to an orthopaedic surgeon for

it and they ended up finding subluxation of his left hip. That was 2 years

ago, and they still are watching it (the hip) to see if he will need surgery.

I don't think the feet and hip problems are really related except that they

both have low tone as a contributing factor.

Nick also received "smafos" (plastic inserts for his shoes) that help to

correct his walk so that the bones in his feet and ankles do not fuse in that

position. Getting used to them wasn't to bad because they had to be

gradually worn-- say 15 minutes on to 1 hour off. Yes, that's a crazy

schedule and we didn't keep it that well. The important thing is to note any

redness that doesn't disappear 15 minutes after they are taken off.

I hope Chayce doesn't have to much trouble getting used to them!

--------------------------------------------------

Date: Fri Feb 4, 2000 2:14pm

[...] Kimberly had surgery for tethered cord in November 1998. It

all started when I asked the pediatrician if there could be a medical

reason for her not being able to hold her urine longer than an hour.

From there we had an xray of the lower spine (which showed that she

does not have a tail bone and the bone above that is not completely

formed), followed by an MRI (which showed the tethered cord and a cyst

that is inside her spine).

After being advised of the tethered cord, we did some research and

discovered that it can cause scoleosis, foot deformities, weak leg

muscles, and loss of bowel and bladder control. Eventually it can

cause complete incontinence and loss of all use of the legs. The

neurosurgeon advised us that there was an 85% chance of scoleosis.

Our daughter was already complaining of leg pain, wanting to be

carried a lot as if she were too tired to walk, and she never really

stood up straight.

The surgery lasted about 2 hours. She was in the hospital for 3 days.

We are amazed at how straight she stands. She walks, runs and jumps

better although not completely unaffected. We have seen a little

improvement in her bladder control. She has more dry days now, but

still wets herself some.

Kimberly's feet have always rolled in so that she walks on her arch.

She has worn shoe inserts for years to correct this problem. It was

not a problem that was getting worse, and it has not improved since

the surgery. But it is a very mild problem. The inserts fit down in

her shoes.

-----------------------------------------------

Date: Fri Feb 4, 2000 6:25pm

What does a "tethered" spinal cord mean for a child? After reading the

Digest, I'm kind of curious and worried about my own child. He is potty

trained during the day, but incontinent at night at almost 8 years old. He

also horseback rides and does lots of other physical stuff. Is there a

danger if a child has this condition? Is it to do with Kabuki? Physically,

he seems o.k., except for the typical low tone. Thanks! I hadn't seen a

Digest in a while and was going to email to see if everything was alright

with it.

---------------------------------------------------

Date: Fri Feb 4, 2000 7:24pm

I also wondered what tethered spinal cord was. According to Pediatric

Neurosurgery pages edited by Neil Feldstein MD, a pediatric neurosurgeon at

Columbia-Presbyterian Medical Center in New York City:

Tethered Spinal Cord

Tethered spinal cords are a group of complicated developmental

malformations of the spinal cord. These are benign conditions but as with

the spina bifida children, can cause terrible consequences if not treated.

There is some overlapping of the naming of these conditions and some of

them are cases of closed spina bifida. The various forms include such

conditions as: tight filum terminale, lipomeningomyelocele, split cord

malformations, dermal sinus tracts, dermoids, and cystoceles.

In general what all of these conditions have in common is a tugging of the

spinal cord at the base of the spinal canal. As children grow, their spinal

cords do not grow as quickly as their spinal columns so relatively the

spinal cord must be able to freely ascend on the inside of the spinal

column during growth. If various abnormal structures are holding onto the

spinal cord from below it stretches the spinal cord and this can lead to

progressive loss of function.

Usually children will complain of pain if they are old enough or may show

some signs of discomfort. As things progress they fail to gain or lose

function of the legs or bowel and bladder. Luckily most of the condit ions

are picked up early due to unusual signs in the middle of their lower

backs. These include fatty masses, areas of increased pigmentation, dimples

or large collections of hair. When noticed these skin signs should prompt

an investigation which usually includes an MRI scan. During infancy an

ultrasound may be adequate to identify one of these conditions. Not to

confuse things, it should be understood that if there is a problem in one

site of the spinal cord, than there may be other problems such as syrinxes.

For this reason it is a good idea to image the entire spinal cord and

potentially the brain prior to treatment.

In general, most pediatric neurosurgeons recommend these conditions be

operated on to pr otect the growing spinal cord. For the child that has

reached adult height with minimal if any symptoms, some neurosurgeons would

advocate careful observation only. The operation is tailored to the cause

of the tethering. In general the spinal column is o pened from behind to

expose the extent of the sites of tethering of the spinal cord. Often

neurosurgeons will have neurophysiologists monitor spinal cord and nerve

function during the delicate operation to minimize risk to these structure s.

The great majority of children tolerate the surgery well and most improve

or at least stabilize with regards to their level of function. There is a

potential for the spinal cord to retether as the child gets older and for

this reason it is important that they be carefully monitored.

------------------------------------------------------

Date: Mon Feb 21, 2000 5:40pm

Has anyone found that having very flexible joints has caused any problems

with their kids? Sometimes just picking up Lexi, her hips or shoulders

feel like they are double jointed. It is a terrible feeling for me, as I

can't handle the sound or even the idea of someone cracking their knuckles.

Yuck! But I am wondering if it is something I need to be more concerned

with, like possible dislocations. [...]

------------------------------------------------

Date: Mon Feb 21, 2000 8:27pm

Stephen has high mobility in his joints too. We have not been concerned about

it. He is 9. The low muscle tone has had a higher impact. That can effect the

bowels. Good thing he eats apples all the time.

---------------------------------------------------

Date: Mon Feb 21, 2000 9:01pm

Thanks for responding. I will ask the doctor that dx. him Both of my kids

also have enlarged lateral ventricles...if this means anything to any of

you. Our latest problem is we're to have MRIs on both kids spines as they

have sacral dimples & are questioning if Aaron has a tethered spinal cord.

His left ft.is so deformed now the talus is now displaced to the left

side.Frequent giving out of his legs & his muscles to the left leg some are

a 3+ clonus & other no response. Allie's left ft, is turning also & is

taking on the same pattern as Aaron's had. Has anyone had any experience in

this area???

------------------------------------------------

Date: Mon Feb 21, 2000 11:29pm

Terry Felts here- podiatrist. I have a little experience in this realm--

certain deformities can result from the hypotonia (weak muscle tone) and the

hypermobility of the joints. The body weight and ground reactive forces will

cause things to move in the 'path of least resistence'. You say the left

talus is turning toward the left (ie toward the little toe)? If so, this is

unusual as the foot tends to collapse toward the center (big toe side) unless

there was an underlying structural problem at birth. If you can be a bit more

specific, maybe I can be more helpful.

----------------------------------------------------

Date: Mon Feb 21, 2000 11:32pm

Usually, when they are that flexible, it does not hurt or bother them. It

does however make them have to work harder as joints (particularly the hips,

legs, feet) are not stable enough to work efficiently.

-----------------------------------------------------------

Date: Tue Feb 22, 2000 6:17am

Thanks so much, yes I'll be mre specific. The following are the orthopec's

words as read from his progress notes from visit on 1/28/00. he states that

Aaron walks with a wide standing shuffle gait, walking on lateral aspect of

lf. ft. w/ a cock-up toe deform. as well as a cavus ft. Rt ft. is

hyperpronanted. sacral dimple on straight back,hips stable. ROM, abduction

to 90 degrees, external rotation to 90 dgr./ internal to 5 drg. No

contractures of hips or knees. 3-beat clonus on lft. ft. Significant

Achilles contracture. Callous formation on lateral aspect of ft. with deep

longitudinal plantar arch with varus alignment of his hindft., as well as a

cock-up toe deform. of gr.toe, more than his lessers.......I hope this helps

u help me!!!

-----------------------------------------------------

Date: Tue Feb 22, 2000 10:22am

The left foot does sound like a neurologic deformity. It is a more difficult

problem to treat. Besides diagnosing and treating (if possible) the

neurologic problem which is central nervous system-- ie make sure that it is

stable and not progressing-- the muscle contractures will need to be

addressed. Sometimes this can be accomplished with tone reducing braces

(light weight plastic leg braces) to prevent the muscle contractures.

Sometimes it requires surgical intervention to lengthen/release the

contracted (deforming) muscles -- to balance if you will the muscle pull.

Typically, the flexor muscles are the over active ones (as in a stroke or

C.P.) If the deformity is rigid or fixed, bone work or fusions may be

required to get the foot straight again (or at least so that the foot is

plantar grade-- not walking on the edge anymore). It would make the foot more

stable and functional but not 'normal' per se. The right foot is more easily

treated with special foot orthotics.

I hope this is helpful-- I would recommend that you see an orthopod (foot

and ankle certification preferred-- usually found at children's hospitals or

universities) or podiatrist that is used to dealing with the neurologic

deformities as it is a very specialized and difficult area (the left foot).

---------------------------------------------------------

Date: Tue Feb 22, 2000 3:36pm

My son has very flexible joints, also. This seems to be very common in kids

with low muscle tone. My late daughter who had Down syndrome also had the

same thing. You oughtta see what he can do with his fingers because of

this! It is absolutely wild and he does it to freak us out. He can bend a

finger from the very top joint completely straight out. This has never

seemed to bother him. This is hyperflexibility is very common w/Kabuki. I

have him in activities to help, e.g., therapeutic horseback riding, bowling,

swimming, etc. You are not alone in this!

-----------------------------------------------------

Date: Tue Feb 22, 2000 9:29pm

Hello! Luke has very flexible joints. This has caused some major delays in

his mobility. Luke is three and just now able to crawl ,Luke is still not

walking but he has gained a lot of muscle control only through the therapies

he recieves.Some of the things that concerned us early on about Luke was the

way he could not hold his body up and how he would just flop over like a

doll. Luke was put in therapy early on and was given a special seating

asignment to follow at home so we could help his bones and muscles form in

the right way. We were also told that with consistent exercises tought to us

by his therapists would strengthen the muscles and eventualy help with all

the flexibility in his joints. [...]

--------------------------------------------

Date: Tue Feb 22, 2000 7:49pm

marissa has low-muscle tone as well and is extremely flexible. It seems very

common with kabukki kids, that is one of the first symptoms marissa was

diagnosed with. My sisters gymnastics instructor says she wishes she could

get her hands on marissa, she would be a wonderful gymnist. [...]

----------------------------------------------------

Date: Wed Feb 23, 2000 6:07am

Hi & once again thank you for your input. You mentioned to make sure the

left ft. deformoity isn't progressive. I wanted to let you know that is has

been progressively getting worse. As an infant,Aaron's left ft. was always

turned as in the upper portion was turned inward,this was always a concern,

but the othopedic we see felt once Aaron was wt. bearing & walking this

would correct itself. It didn't, we see him every 6 mos. & each time thought

it wasn't too bad,no bracing was ordered even when I asked if that might

help he wasn't sure it would be necessary. It did affect his walking which

he didn't do till 3 1/2 yrs. , but not bad. It wasn't until this past

summer,he was 5 then that it started rapidly getting worse to the point now

that he can't walk much or for long distances & his legs give out on him at

times. My other concern is his sister who is now 27mos.also has her left ft

turnong ever so slightly , just as Aaron's did back then & is she following

the same path. She unlike Aaron however at this age will not even stand

yet...no wt. bearing at all, she screams...they both have partial trisomy 2

& partial monosomy 14. Aaron was also dx. with Kabuki last summer. We have

an appt. in early March to take both kids to another Dr....we're going to

the Shriner's children's hospital in Montreal, Canada, where they will both

see a neurosurgeon & an orthopedic. Any other advice would be greatly

appreciated.

------------------------------------------------

Date: Thu Feb 24, 2000 0:25am

It sounds like you are on the right path with the Shriner's hospital--seeing

both the neuro surgeon and the orthopedist. By progressive, I meant the

causitive neurologic process-- the foot deformity will progress as long as

the muscle imbalance persists. There are neurologic processes that are

progressive like muscular dystrophy and forms of nerve degeneration that will

worsen and we are constantly trying to play 'catch-up'. However, if there was

a one time cord injury or brain 'injury' of some sort that is not worsening,

the balancing techniques I mentioned (bracing, surgery etc.) will help. I

don't know why your daughter is screaming-- it may be the same 'injury' has

also caused her sensation to change-- increasing her pain response,

'hyper-sensitive', or fear of not being supported?? The neurologist should be

able to help determine the cause with examination or testing. It can also be

more remote, like her hips or back bothering her. Catching her foot earlier

will probably help -- so I am glad they are both going. Please keep me

posted-- and let me know if I can be of further help.

-------------------------------------------------------------

Date: Sun Apr 2, 2000 9:18am

>Do any of your children have a fracture of the spine at L5-S1? or

>spondylolisthesis spondylitis? Hip dysplasia?

>What are the docs saying to do?

>Elise has complained of leg pain and back pain so I took her the Ortho Dr.

>and he said the fracture could be genetic or because she has fallen a lot

>due to poor balance that it could be an old injury.

---------------------------------------------------------

Date: Sun Apr 2, 2000 5:25pm

Nicholas does have a subluxed left hip which I think is just another way to

describe hip dysplasia. The orthopaedic surgeon relates it to his low tone.

He gets xrays every 6 months and may have to have surgery at some point. He

is supposed to get spine xrays every year to check his mild scoliosis and

kyphosis. (they forgot to do it when he was there last so it hasn't been

done in the last 15 months). I don't know if an xray would show the spine

problems you mentioned but I don't think he is having any pain at this point.

I do remember other talk on the list of tethered cords etc.

I'm sure others on the list will have more to share ( Sue Tag?).

-------------------------------------------------

Date: Mon Apr 3, 2000 6:23am

My son Robert (4 1/2) was diagnosed with a T-11 hemi-vertebra and

mild scoliosis when he was an infant. They were discovered in an x-

ray by his orthopedist. He informed us that they weren't an issue,

but that Robert would have to be watched periodically for tethering

of the spinal cord (should the 2 halves fuse together). Margot's

email of 2/4/00 defines tethering wonderfully!

----------------------------------------------------

Date: Tue Apr 4, 2000 11:04am

Evan, age 5, was diagnosed at birth with congenital hip dysplasia. His

right hip was successfully operated on last October. The operation was

called a "Salter Osteotomy". He was in a full body cast for 2 months. Once

the cast was removed, he was up and walking within a week. His other hip

looks okay so far. If you believe your child may have hip dysplasia, it's

important to have an x-ray done. Evan did not show any signs of pain. His

pelvic structure was deteriorating due to his femur bone jutting out. If

surgery wasn't done at any early age, the orthopedic surgeon told me he

would probably need a full hip replacement in his older years (which is far

worse).

His spinal cord is at an L2 level - which means it ends at a slightly lower

level than normal. There is no concern for it as long as there is not pain

in the spine or restriction in the legs. The neurologist told me that this

could cause some bowel problems. When he was around 2 years old, they told

me to watch his bowel control once he was potty trained. I'm happy to say

that he is potty trained during the day and doesn't have a problem holding

it for a while to reach the washroom. These are small signs to watch for.

----------------------------------------------

Date: Tue Apr 4, 2000 11:15am

It's the full body cast that has me worried the most. However did your

family get through it?

----------------------------------------------------

Date: Tue Apr 4, 2000 4:17pm

I was sick with worry when Evan went in to have his operation. I was

probably more worried about the psychological impact rather than the

operation itself. He struggled with his cast for the first 2 - 3 days in

the hospital. He cried a lot and was terribly confused (from the morphine).

However, he was almost back to his normal self by day 6. When I took him

home, he was happy and adjusted very well to his limitations and cast.

Besides a little pain for the first week or two, he was great. He

complained only when he had an itch (which was rare). He just sat in his

leather recliner and ordered me here and there for his juice, videos, etc.

: ) I think he enjoyed all the extra hand and foot attention he was

getting. I must say that we as adults would have complained a lot more!

I had access to a wheelchair that reclined (as he could only sit in a

recline position). I now have a new appreciation for parents who have

handicapped children. It was a lot of work packing it and him around! We

all managed though and Evan was chipper from the day he arrived home with

the cast to the day it came off. I believe that doing it in the winter

months made it a lot easier on Evan. Overall, I think it was harder on

me than Evan.

Does Nicholas need an operation as well?

--------------------------------------------------

Date: Tue Apr 4, 2000 7:56pm

Wow, I can't believe Evan adjusted so well to the cast! And was walking

around again so quickly after it was taken off!

Yes, my 4 year old son Nicholas has a subluxed left hip that ortho is

watching with xrays every 6 months. The surgeon seems to think we will have

to have surgery but is holding off for the developmental impact of being

casted so completely. We have a hip pillow we are supposed to be putting on

at night. If I get it on him a few nights a week we are doing well. I have

to wait until he gets to sleep and is in the right position-- he is a light

sleeper so it's not easy! Still if it helps to avoid surgery it will be

worth it! Did you try this before surgery too?

Was Evan able to go to school with the cast? I think it was Nicholas' PT

that has scared me the most about it... she says that usually the kids don't

come to school when they have the casts on because they're in to much

discomfort. [...]

---------------------------------------------

Date: Tue Apr 4, 2000 10:54pm

My son Jonathan too had hip dysplasia. He wore a brace for two years trying

to correct it but when he was five years old he had bilateral pemberton

osteotomies and was in a body cast for 2 months. After the surgery he spent

two days in the hospital and was kept on morphine for most of the time. They

weined him off before he went home and gave him tylenol with codeine which he

used for maybe two or three days after. He was uncomfortable for just a few

days. After that he never complained about being uncomfortable. I think the

trick was to just keep him busy. We were able to rent an electric hospital

bed that conformed to his body and cast and we also rented a reclining wheel

chair to get him around. He didn't go to school, but the school came to him.

He had tutors, physical therapy, speech therapy and occupational therapy at

home. From what I remember, the school system is responsible for arranging

home education if the child is going to miss more than a specific amount of

time from school. I would imagine that would be up to your state/local

education laws. Jonathan had his hip surgery in May and we went fishing

every day from the time his sister went to school til the time she came home

from school. We would pack a picnic lunch and he would throw his line in and

bring it out

over and over again. If I never see another worm it won't be too soon!

FYI, He never had any symptoms and the docs found the hip dysplasia when

they were looking for something else. I would tend to think that anyone with

Kabuki should have a hip x ray just to rule this out.

Anyway, I think I too was more worried than I needed to be. He adjusted so

quickly

and I really want you to believe me when I say he never complained at all.

I know it's hard and can make you very anxious, but think about the

alternative. Also keep in mind that the younger the person is, the faster

the bones heal. If I remember correctly, Jonathan had his cast taken off

almost three weeks earlier than expected. I hope this helps. Any questions,

just let me know.

-----------------------------------------------

Date: Wed Apr 5, 2000 1:48pm

Hi from a new member! My son is 18 months and has both hips

dislocated. He is scheduled for surgery this Friday, April 7th. We

are hoping for a closed reduction and 6 months of casting. If the

procedure doesn't work, the alternatives are leaving the hips out of

socket or doing an open reduction (very difficult and invasive

procedure). Does anyone have any experience with the two surgery

options? We wondered what part the joint laxity would play in his

chance for a successful outcome.

-----------------------------------------

Date: Wed Apr 5, 2000 9:44pm

I just picked up on this topic and have a question. When Lexi was born,

she was a preemie and thus she had a lot of lines places and x-rays were

taken to insure proper placement of the lines.

On one of the reports the radiologists writes, "The 12 thoracic segments

are followed by 6 lumbar segments so there is an additional thoracolumbar

vertebra. The T9 and T10 vertebra are not symmetric, with T9 being taller

on the left side and T10 being taller on the right side. There is also a

sickle shaped sacrum curved toward the right. This type of sacral

configuration can even be associated with anterior meningocele."

When she was 7 months old, she had a complete skeletal x-ray done (genetics

requested) and that radiologist writes, "There is a left-bending curve

lumbar scoliosis with an asymmetric pelvis, which is felt to be

positional." "There is increased intervertebral distance with hypolasia of

a portion of the vertebra, but both pedicles are still visualized. There

is a decrease in the vertebral body height, with an anterior notch. The

adjacent disc heights appear normal."

Now what the doctors told me in laymans terms, was that she had an extra

vertebra and a hemi-vertebra. The half vertebra was what was causing the

slight scoliosis, but I didn't need to worry about it.

Do I need to worry about it?

Her tailbone is turned in some weird way that the bone seems to stick out,

versus under. I know this because everytime I have to wipe her bottom,

there is a sharp bone sticking out there. The drs said the padding from

her "buns" should take care of that issue, but it doesn't. Just the other

day she mentioned that her "hinder" hurt her when she sat down, I imagine

she hit the bone hard.

------------------------------------------------------

Date: Thu Apr 6, 2000 7:59am

My name is Sue. Mom to Robert, 4. I have a niece who

has similar physical characteristics to Kabuki, but has not been

diagnosed. She is a perfectly healthy, 8 year old. However, when

she was an infant she did have a hip surgery, similiar to the one you

are going to have for your son. She too was in a cast for several

months.

It's amazing how resilent children are. Although she couldn't crawl

because of the cast, she scooted along on her hands and feet. The

operation was a success and she has not had a problem since.

However, now that she is a cheerleader, my sister has noticed that

she great difficutly doing the splits. (She too is hyperextensive).

From what we can determine, scar tissue has caused that area to

tighten up. Other than that she has had no problems since then.

Just thought I'd share that with you. Hope all goes well Friday. I

know how agonizing surgery can be for the Mommies. Hang in there.

He will be fine!!!! :)

---------------------------------------

Date: Thu Apr 6, 2000 4:45pm

[...] Jackson was also diagnosed with hip

displaysia at birth, and one hip remains out of the socket at this point.

We are currently waiting for proper bone development before we proceed with

surgery and casting. Always more to come! [...]

-----------------------------------------------------

Date: Mon May 1, 2000 9:49am

Hi everyone, I haven't written in awhile yet I have been reading the

messages. To refresh you all of my story I have 2 kids both with

partial trisomy 2 & partial monosomy 14, my 6 yr old son also dx.

with Kabuki where my 2 yr old daughter they aren't so sure. [...]

Both kids are going June 8 th to

Montreal Children's Hospital for spinal MRIs as it appears they have

tethered spinal cords. Allie is wearing a brace for her left ft now &

Aaron'a left ft. was too far gone so he'll need the surgery & serial

casting. I would like some info of any geneticists nearby they have

dealt with kabuki...also do any of you live near me?? I have so many

questions!!!

-----------------------------------------

Date: Wed Jun 14, 2000 9:50am

In looking in the files, a letter from on Feb 4, 2000 stated

that her daughter complained of leg pain (among other symptoms) due to a

tethered cord. Are there any other possible reasons for leg pain in

children with Kabuki?

A mom of a 9 year old boy with Kabuki writes:

>>"He has been rubbing at his shins, complaining that his legs hurt. He is

normally extremely active, but has been more on the calmer side this past

week. More tired, lethargic etc. He started complaining a few weeks ago,

not to often or much but during the past week I have definitely noticed a

difference in his demeanor, quieter more sedentary as if he has little to

no energy.

Could it be just "growing pains"?<<

--------------------------------------------

Date: Wed Jun 14, 2000 9:53am

You ask about other causes of leg pain and could it be growing pains.

I do not believe in growing pains-- most of the patients I see that were

diagnosed with growing pains have so mechanical problems-- things like leg

and foot alignment, tight musculature or hypermobile joints. Certainly,

neurology could play in to these factors. Many of these symptoms can be

easily helped with the right shoes, stretching or strengthening exercises,

orthoses and sometimes other types of bracing. It is worth a trip to a

podiatrist or pediatric orthopedist to have it evaluated if it is limiting

his activities or participation.

Dr. Terry Felts

----------------------------------------------

Date: Fri Jun 16, 2000 8:33pm

My daughter, Kimberly, did complain of her legs hurting her prior to the tethered cord surgery. This did not come on suddenly. After her diagnosis we realized that over the course of several months her legs had become weaker--she walked shorter distances, ran less, tired out quicker--and eventually began complaining of the pain.

--------------------------------------------------------

Date: Tue Aug 8, 2000 3:31am

[...] Potty training is another whole story. Nicholas is still in diapers all day

and has no want to go on the potty. He could sit in a dirty diaper for hours

if I let him. In September we are going for an xray of the back. His

neurologist seems to think he might have some form of Spina Bifida and that

is why we can't potty train him because he doesn't have enough feeling to go.

Does anyone else have a child with a large hair patch on the bottom of his

spine? I know KK kids tend to be hairy so I'm not sure if it's that or the

spina bifida. Let's hope it's just the Kabuki.

------------------------------------------------------

Date: Tue Aug 8, 2000 5:23am

yes to the large hair patch

---------------------------------------------

Date: Tue Aug 8, 2000 6:09am

another yes on the hair patch!

---------------------------------------

Date: Tue Aug 8, 2000 10:48am

add one more to the list

----------------------------------

Date: Thu Aug 10, 2000 1:46am

My Hannah, also has a deep dimple right in the middle of her back only just above her buttocks. She has no hair patch. Further investigations appear to be needed

------------------------------------------

Date: Thu Aug 10, 2000 3:57am

Hello everyone. Has anyone ever had an xray on the back for spina bifida?

If so how did it turn out? I know alot of KK kids have scoliosis and other

problems with the spine. Has any doctor even mentioned this to any of the

you? It worries me alot to even think of any kind of surgery that has to do

with the spine but I certainly don't want Nicholas in diapers his whole life

either and this school year we are really going to go for the potty training

but we must wait and rule out any medical problems first. Our appt is on

Sept. 5 so I will hopefully know then what is what.

---------------------------------------------------------

Date: Sat Aug 12, 2000 11:11am

Our daughter, Kimberly, had an xray of her spine about two years ago. It showed that she had no tail bone and the bones above the tail bone were only partially formed. We asked the doctors (neurosurgeon and orthopedic specialist) all kinds of questions about possible problems this might cause--numb bottom from sitting, possible injuries because no bone there to protect her, etc.--but we were assured that the absence of these bones would not create problems like this.

The xray was followed by an MRI, which showed a tethered spinal cord and a fluid filled cyst that is completely inside the spinal cord. November 1998, Kimberly had surgery for the tethered cord and that surgery helped significantly with her posture and her legs have strengthed since then. However, it did not help her become potty trained.

This fall she will have another MRI to check on the status of the cyst. Our neurosurgeon was rather unconcerned about the cyst, just said we would monitor it every couple years with an MRI. I don't know if that could be affecting her level of sensation where her bladder and bowels are concerned or not? The doctors just seem to dismiss our concerns, Sometimes I think they don't know and don't want to look dumb.

Kimberly does not have a hairy patch, but she does have a reddish birthmark on her back at her waist, these can also be signs of spinal problems.

----------------------------------------------------------

Date: Sun Aug 13, 2000 10:26pm

Earlier this year when there was much talk about children having a teatherd spinal cord, I expressed concern about this to Lukes doctor. Luke was found to have a patch of hair and a dimple below it. Luke was then given a scan of his lower back and the scan showed no problems what so ever. It was a relief to know that sometimes even with the signs there was no actual problem with his spine. [...]

------------------------------------------

Date: Sun Aug 20, 2000 5:28pm

My daughter has a dimple at the base of her back.

After several years we had her checked by doing an MRI

because she was not potty trained. Everything turned

out fine. [...]

---------------------------------------------

Date: Sun Aug 27, 2000 10:17pm

There have been several items in the KSN e-mail lately that are similar

to our experiences with our son, Alan, now 12.

[...] 3) Spinal cord

Alan also has a dimple at the base of his spine. He had MRIs of his

spinal cord and brain because of his walking and balance problems. His

spine was OK except for a fatty tumor at the base of the spine. The

doctor said the tumor probably would not cause problems. They took a

second MRI about a year later, to see if the tumor had grown (it

hadnít.)

Alan walks OK, but his balance is still poor. Stairs are a problem for

him, and he doesnít run well. [...]

-----------------------------------------------

Date: Tue Oct 3, 2000 4:30am

Hello everyone! I have received the results of Nicholas' MRI and it showed

Spina Bifida. The spinal cord was dialated and excessive fluid was running

from the neck down. Anyway my neurologist is sending him to a urologist for

a uro dynamics test to see if the bladder is contracting properly because

Nicky is stilll not potty trained. I asked the Dr if I should be concerned

about this excess fluid in the spine if the urology test comes back okay and

he said I shouldn't look for any other problems. I don't think this answer

is accepatable so I am now going to Dupont Childrens Hospital in Delaware for

an evaluation by a neurosurgeon which my pediatrician recommended. Does

anyone have any advice for me on this subject and does anyone have a Kabuki

kid with this problem? Thaks a lot.

-------------------------------------------------------

Date: Mon Oct 30, 2000 8:40am

[...] Her high tone and dislocated hips have not

helped her get around so that she can explore and learn more like a

regular toddler. We control all of her exploration and I feel this

has slowed her down a lot. [...]

-----------------------------------------------------

Date: Mon Oct 30, 2000 11:07am

Just wondering if you were planning to correct the dislocated hips. My son just turned two and we had his hips surgically corrected at age eighteen months. He has been out of his cast for three months. I can't believe the difference. They told us 6 to 12 months rehab. Would you believe he's almost walking? When he came out of the cast he wasn't even able to sit. Within 5 days, he was crawling. Don't get me wrong, the surgery and casting period are probably the worst thing we've all been through (and that includes open heart surgery). But, now that all is said and done, we feel that it was a very good choice for Will.

Our little guy is also age appropriate for all other developmental areas. Physically he was just behind. Now, unless you see all of his scars, you can't tell there was ever anything wrong with him. Life has really turned around for all of us.

If you have any other questions regarding hips, please write back. I would be happy to share any info we have. Good Luck!

---------------------------------------------------

Date: Tue Oct 31, 2000 7:23am

[...] I was wondering for those who have had the hip surgery what are the signs that you look for that tells you that your children need this?

--------------------------------------------

Date: Tue Oct 31, 2000 8:01pm

Jackson was diagnosed with both hips dislocated at birth. We were sent home with a Pavlic harness (a type of Velcro brace) and he was in that for 4 weeks. His left hip (with ultrasound) was then determined to be in a good position, but his right hip was still dislocated. At 7 months of age, they attempted under anesthetic to maneuver the hip back into position, but to no avail. The next step was surgery and casting which was done on Sept. 1st. He got out of the cast on October 24th and he's now in a brace for several more weeks to assist with the development of the socket and the bones. Apparently children can and will learn(if motivated) to do all that they need to do, even with dislocation. You might notice an odd gate to their walk, almost like a limp... but not always. I could literally feel Jackson's hip bone sticking out his side, but he still moved around and kicked a lot with no obvious discomfort at all. Ultrasound and x-ray would for sure tell you what position the hips are in, and orthopedics would advise from that point on. It's hard for me to tell results at this point, as Jackson is still in the brace, but I'm sure it will all be very worthwhile!

-------------------------------------------------

Date: Wed Nov 1, 2000 3:49am

Some signs that our daughter's hip problems were worsening were:

*her gait...in her case they called it a Trendelenberg gait - swaying

from side to side.

*pain when trying to do something like swinging her leg over her bike

to get on.

*X-ray confirmed the head of the femor was grinding on the hip

socket.

We did get a second opinion and the second surgeon agreed that without

surgery her hip would continue to degenerate. She would be too young for a

hip replacement and would in all liklihood be in a wheelchair. This was at

age 11! The surgery was no day at the beach, but her hip is stable now...she is 17 1/2. Lots of Physical therapy and myofacial therapy to ease the pain in the surgical site. Scarring can be painful as the scar tissue tends to "grow" onto the plates, pins and screws. The myofacial therapyhelped keep things moving freely and kept the scars from becoming very thick.

-----------------------------------------------

Sent: Monday, October 30, 2000 11:08 AM

Just wondering if you were planning to correct the dislocated hips. My son just turned two and we had his hips surgically corrected at age eighteen months. He has been out of his cast for three months. I can't believe the difference. They told us 6 to 12 months rehab. Would you believe he's almost walking? When he came out of the cast he wasn't even able to sit. Within 5 days, he was crawling. Don't get me wrong, the surgery and casting period are probably the worst thing we've all been through (and that includes open heart surgery). But, now that all is said and done, we feel that it was a very good choice for Will. [...]

-------------------------------------------

Date: Tue Nov 21, 2000 1:54pm

[...] In response to the question on dislocated hips. Will's hips were dislocated from birth. He has loose joints, but does not seem to have low tone. Is that possible? He had surgery to correct at 18 months. He has been out of his cast for 3 1/2 months. We've been told rehab will take 6 - 12 months. So far he's doing more with those little legs than he ever did before surgery. They just don't feel the same when they're not in the sockets. We get a lot of sensory input from our joints. It was difficult for him to get a good sense of where his legs and feet were. He also was not able to move his legs in normal kid positions. For instance, he could not sit cross legged. When he would pull to a stand, he simply put pressure on his feet, in whatever position they happen to have been in as opposed to going into a 1/2 kneel and stepping up. And, the transitioning from sitting to crawling was done by just splitting the legs all the way around and ending up on all fours, if you can picture that. After the cast came off. All of that had to be re-learned. But, within a couple months, it was all there, looking very "normal". So, in a round-about-way, Yes, I absolutely think dislocated hips hamper the kids in their gross motor development.

Also, I'm not convinced there isn't some amount of discomfort in dislocated hips. Will, is noticeably happier than before his surgery. It took 6 - 8 weeks after the cast came off for him to adjust to things, but after that, the change in him was pretty remarkable. I don't want to sugarcoat this whole thing. The truth is, I would just about rather do anything than go through those surgeries and casting again. Sorry to have to add that, but it is not an easy thing for anyone in your family to have to go through. If you have a closed reduction, the surgery part (from what I understand) is much easier. Good Luck with your babe. Our prayers are with you.

------------------------------------------------

Date: Fri Nov 24, 2000 6:57am

[...] She has dislocated hips which they can't operate on due to "high tone" opposite to most KS kids. She is receiving extensive therapy to work

through this naturally as opposed to getting surgery. My husband's

work schedule is more flexible and he has another daytimer for Mila's

appointments. The therapy is working but slowly! [...]

---------------------------------------------