回旋镖发育不良的产前诊断

Prenatal diagnosis of boomerang dysplasia.

作者信息

Wessels Marja W, Den Hollander Nicolette S, De Krijger Ronald R, Bonifé Luisa, Superti-Furga Andrea, Nikkels Peter G, Willems Patrick J

机构信息

Department of Clinical Genetics, Erasmus University and University Hospital, Rotterdam, The Netherlands.

出版信息

Am J Med Genet A. 2003 Oct 1;122A(2):148-54. doi: 10.1002/ajmg.a.20239.

DOI:10.1002/ajmg.a.20239

PMID:12955767

Abstract

Boomerang dysplasia, atelosteogenesis type 1 and Piepkorn dysplasia are bone dysplasias with an overlapping clinical spectrum characterized by deficient formation and ossification of specific elements of the skeleton. Typical symptoms include micromelia with diminished ossification, and a characteristic bowed and boomerang-like aspect of the long tubular bones. We report here a new case of boomerang dysplasia, which was detected prenatally in the 16th week of gestation by ultrasound.

摘要

回飞镖发育不良、1型atelosteogenesis和Piepkorn发育不良是一组骨骼发育不良疾病，它们具有重叠的临床谱，其特征是骨骼特定元素的形成和骨化不足。典型症状包括骨化减少的短肢畸形，以及长管状骨特有的弓形和回飞镖样外观。我们在此报告一例回飞镖发育不良的新病例，该病例在妊娠第16周通过超声产前检测到。