ARTICLES WHICH MENTION COLOBOMAS

 

  1. Premature thelarche in Kabuki make-up syndrome - Acta Paediatrica Japonica 36 pp.104-106 1994 Author: Tutar HE, et al.
  2. - choroidal coloboma (page 1)

  3. Kabuki Make-Up (Niikawa-Kuroki) Syndrome in the Byelorussian Register of Congenital Malformations: Ten New Observations - American Journal of Medical Genetics 56 pp.127-131 1995 Author: Ilyina H, et al.
  4. - case 5 has biliateral retinal coloboma (page 129)

  5. Niikawa-Kuroki syndrome - Minerva Pediatr. Jul-Aug;51(7-8) pp. 271-8 1999 Author: Roccella M.
  6. - case 2 has iridocoloboma (page 272)

  7. Kabuki syndrome - Report of six cases and review of the literature with emphasis on ocular features - Ophthalmic Genetics Mar;21(1) pp. 51-61 2000 Author: Kluijt I, van Dorp DB, Kwee ML, Toutain A, Keppler-Noreuil K, Warburg M, Bitoun P.
  8. - case 1 has colobomas (page 53)

  9. Long-term hormone replacement therapy in two patients with Kabuki syndrome and growth hormone deficiency - Minerva Pediatr Jan-Feb;52(1-2) pp. 47-53 2000 Author: : Gabrielli O, Carloni L, Coppa GV, Bedeschi MF, Petroncini MM, Selicorni A

- case 1 has choroid coloboma and partial coloboma of left optic nerve

INFO ON THE WEB

http://www.healthcentral.com/peds/top/003318.cfm

 

CONTACTS

MACS - Micro and Anophthalmic Children's Society

A support group for parents with children with Anophthalmia (partial or complete absence of eye development), Microphthalmia (eye began to develop, but then stopped), and Coloboma.

1 Skyrmans Fee

Frinton on Sea

Essex, England

CO13 0RN

Ph# +44-0-870-00-6227

Web site: http://www.macs.org.uk

PARENTS TO CONTACT

Priestley, Glynis & Jason Steele

79 Garesfield Gardens Burnopfield

New Castle Upon Tyne NE16 6LF

UNITED KINGDOM

Ph# 01207-270607

Email (via therapist): mariescott40@hotmail.com

Menchel, Brian & Laura

107 Shenandoah Rd.

Cinnaminson, New Jersey 08077

USA

Ph# 609-786-0740

Email: laura.l.menchel@lmco.com

Benton, Sylvia

2406 Dallas Ave.

High Point, North Carolina 27265

USA

Email: Sylvie9502@aol.com

Damiri, Mark & Kathleen

1221 Belfield Ave.

Drexel Hill, Pennsylvania 19026

USA

Ph# 610-449-1506

Email: kadie1129@aol.com

Schutz, Tom

2148-B Avenida de la Playa

La Jolla, California 92037

USA

Email: thomasschutz@yahoo.com

Angie Mellen

2255 Paseo Dorado

La Jolla, California 92037

USA

Email: amellen@san.rr.com