[Ocular coloboma associated with cervico-oculo-acoustic syndrome].

Abstract

INTRODUCTION:

Cervico-oculo-acoustic syndrome is an uncommon syndrome consisting of Klippel Feil syndrome, deafness, and Duane syndrome. We relate a new case of cervico-oculo-acoustic syndrome.

CASE REPORT:

We report the case of 15-month-old girl referred for esotropia of the right eye. Ocular examination revealed type 1 Stilling Duane syndrome in the right eye, in which we also noted microcornea, iris coloboma, and papillary and inferior chorioretinal coloboma sparing the macular area. The left eye was normal. The physical examination revealed Klippel Feil syndrome characterized by an extremely short neck with limited movement, a low posterior head line and fusion of the cervical vertebrae on radiography. The association of hearing loss (due to agenesis of the external ear) with Klippel Feil syndrome and Stilling Duane syndrome confirmed the diagnosis of cervico-oculo-acoustic syndrome.

CONCLUSION:

This case is unique because of the association of cervico-oculo-acoustic syndrome with ocular coloboma of the right eye. This association has not been reported previously in the literature.

• Authors: R Kamoun, L Kria, K Erraies, R Anane, A Meddeb Ouertani
• Journal: Journal francais d'ophtalmologie (J Fr Ophtalmol) Vol. 29 Issue 7 Pg. e16 (Sep 2006) ISSN: 1773-0597 [Electronic] France
• Vernacular Title: Colobome oculaire associé au syndrome cervico-oculo-acoustique.
• PMID: 16988622 (Publication Type: Case Reports, English Abstract, Journal Article)

Topics

• Coloboma (complications, diagnosis)
• Deafness (complications)
• Duane Retraction Syndrome (complications)
• Female
• Humans
• Infant
• Klippel-Feil Syndrome (complications)