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HK J Paediatr (New Series)
Vol 11. No. 4,
2006
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HK J Paediatr (New Series) 2006;11:310-316
Case Report
Smith-Magenis Syndrome in Chinese with Previously Unreported Craniofacial Features and Association with Joubert Phenotype
ACF Lam, KKS Lai, ATC Chau, LPK Cheng, STS Lam Clinical Genetic Service, Department of Health, Hong Kong, China ACF Lam ( 林傳發 ) MRCPCH
KKS Lai ( 黎強新 ) BSc
ATC Chau ( 周達智 ) BSc
LPK Cheng ( 鄭佩君 ) MRCP
STS Lam ( 林德深 ) FHKAM Correspondence to: Dr STS Lam Received July 3, 2006
Abstract Smith-Magenis syndrome (SMS) is a clinically recognisable multiple congenital anomalies syndrome marked by distinctive craniofacial dysmorphism, behavioural and neurological abnormalities. Other additional abnormalities depend on the extent of contiguous genes involvement. We compared the clinical features of four SMS patients; and report new, consistent and previously unrecognised craniofacial features in the syndrome; and in addition, reporting the second case of SMS with Joubert phenotype in literature. Keyword : Deletion 17p11.2; Joubert syndrome; RAI1; Smith-Magenis syndrome (SMS)
Abstract in Chinese
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