Kai H Lee1, Peter Hayward. 1. Oral and Maxillofacial Surgery, Christchurch Hospital, Christchurch, New Zealand.
Abstract
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.
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 palatechildren 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.
Authors: Jacqueline K Rainger; Shipra Bhatia; Hemant Bengani; Philippe Gautier; Joe Rainger; Matt Pearson; Morad Ansari; Jayne Crow; Felicity Mehendale; Bozena Palinkasova; Michael J Dixon; Pamela J Thompson; Mar Matarin; Sanjay M Sisodiya; Dirk A Kleinjan; David R Fitzpatrick Journal: Hum Mol Genet Date: 2013-12-20 Impact factor: 6.150