Table of Contents

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

HK J Paediatr (New Series) 2006;11:324-326

Case Report

Boomerang Dysplasia in a Chinese Female Fetus

ACF Lam, SJ Hu, TMF Tong, STS Lam


Abstract

Boomerang dysplasia (BD) was first described by Kozlowski et al in 1981; and is a form of neonatally lethal chondrodysplasia. The name itself vividly described its characteristic radiographic features, and the importance of recognising these features has major implication in genetic counselling. All, except two reported cases of BD were males. We here reported the third female case of Boomerang dysplasia in literature.

Keyword : Boomerang dysplasia; FLNB gene; Skeletal dysplasia


Abstract in Chinese

 
 

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