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HK J Paediatr (New Series)
Vol 11. No. 4,
2006
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HK J Paediatr (New Series) 2006;11:320-323
Case Report
Thanatophoric Dysplasia Type 1 (TD1) without "Telephone Receivers"
ACF Lam, YY Lam, TMF Tong, DKH Chan, WL Lau, DKK Ng, CS Ho, Kw Chan, STS Lam Clinical Genetic Service, Department of Health, Hong Kong, China ACF Lam ( 林傳發 ) MRCPCH TMF Tong ( 唐鳴科 ) MSc DKH Chan ( 陳錦雄 ) MRCP STS Lam ( 林德深 ) FHKAM Paediatric and Child Health Department, Kwong Wah Hospital, 25 Waterloo Road, Kowloon, Hong Kong, China YY Lam ( 林琬瑜 ) FHKAM DKK Ng ( 吳國強 ) FHKAM CS Ho ( 何誌信 ) FHKAM KW Chan ( 陳國偉 ) FHKAM Obstetrics and Gynaecology Department, Kwong Wah Hospital, 25 Waterloo Road, Kowloon, Hong Kong, China WL Lau ( 劉偉霖 ) FHKAM(O&G) Correspondence to: Dr STS Lam Received July 3, 2006
Abstract Thanatophoric dysplasia (TD) is a relatively common neonatal lethal skeletal dysplasia. It is subdivided into type 1 (TD1) and type 2 (TD2). By definition, TD1 is differentiated from TD2 by bowed femori, the so called "telephone receivers". TD2 is distinguished by straight femori and cloverleaf skull deformity. We described a case of TD1 with atypical feature of almost straight femori, and was found to have characteristic TD1 missense mutation C746G in FGFR3 gene. Keyword : Bowed femori; FGFR3 gene; TD1; Thanatophoric dysplasia
Abstract in Chinese
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