Table of Contents

HK J Paediatr (New Series)
Vol 11. No. 4, 2006

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


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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