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.