ANZ journal of surgery · 2008
Retrospective review of Stickler syndrome patients with cleft palate 1997-2004.
СтатьяНазвание и аннотация: Перевод в очереди
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Lee Kai H, Hayward Peter
Аннотация
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.
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.