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HK J Paediatr (New Series)
Vol 11. No. 4,
2006
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HK J Paediatr (New Series) 2006;11:331-334
Case Report
Thanatophoric Dysplasia Variant, San Diego Type in a Chinese Fetus, Caused by C746G Missense Mutation in FGFR3 Gene
ACF Lam, TMF Tong, MHY Tang, S Lo, CP Lee, E Lau, STS Lam Clinical Genetic Service, Department of Health, Hong Kong, China ACF Lam ( 林傳發 ) MRCPCH
TMF Tong ( 唐鳴科 ) MSc
STS Lam ( 林德深 ) FHKAM Prenatal Diagnostic and Counselling Centre, Tsan Yuk Hospital, Hong Kong, China MHY Tang ( 唐海燕 ) FHKAM(O&G)
CP Lee ( 李之朋 ) FHKAM(O&G)
E Lau ( 劉嚴德光 ) PhD Obstetrics Department, Pamela Youde Nethersole Eastern Hospital, 3 Lok Man Road, Chaiwan, Hong Kong, China S Lo ( 羅宇帆 ) FHKAM(O&G) Correspondence to: Dr STS Lam Received July 3, 2006
Abstract Thanatophoric dysplasia variant - San Diego type (TD-SD) is a variant of thanatophoric dysplasia (TD), sharing with TD subtype TD1, common mutations in the FGFR3 gene. We describe the first local case of TD-SD with missense mutation C746G in FGFR3 gene. Radiologically, major features consist of macrocephaly, wafer thin vertebral bodies, and metaphyseal flaring of tubular bones that differentiate from other types of thanatophoric dysplasia. Keyword : FGFR3 gene; Platyspondyly lethal skeletal dysplasia; San Diego type; Thanatophoric dysplasia
Abstract in Chinese
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