Retrospective review of Stickler syndrome patients with cleft palate 1997-2004.

BACKGROUND

Stickler syndrome is a rare autosomal dominant connective tissue disorder estimated to affect approximately 1/7500 newborns. It is diagnosed clinically and, at present, there is no consensus on a minimal clinical diagnostic criterion. The aim of this series was to evaluate the outcome of a group of cleft palate children with Stickler syndrome in a large tertiary children's hospital in New South Wales.

METHODS

The International Classification of Diseases-10 code for 'other specified congenital malformations affecting facial appearance' over past 8 years (1997-2004) and an internal database from the Cleft Clinic were used to search for patients. Patients were included if the diagnosis was confirmed by a clinical geneticist, an ophthalmologist and a paediatric plastic surgeon.

RESULTS

A total of nine patients were identified. All had cleft palate. Six patients had Pierre Robin Sequence. The most common non-craniofacial manifestation was a refractive error, followed by musculoskeletal abnormalities and hearing impairment. Seven patients had some form of myopia bilaterally. Four patients had hearing impairment. Six patients had musculoskeletal abnormality.

CONCLUSION

There are few data in published work that follow patients with Stickler syndrome with initial cleft presentation. These patients can have potentially disabling consequences as a result of ophthalmological, musculoskeletal, auditory and cardiac problems. Early identification is crucial to allow referral to appropriate service.