一种新的致死性骨骼发育异常还是atelosteogenesis谱系的严重末端？

A new lethal skeletal dysplasia or the severe end of the atelosteogenesis spectrum?

作者信息

Fryer A E, Carty H

机构信息

Regional Clinical Genetics Service, Royal Liverpool University Hospital, Liverpool L69 3BX, UK.

出版信息

Pediatr Radiol. 1996 Sep;26(9):678-9. doi: 10.1007/BF01356834.

DOI:10.1007/BF01356834

PMID:8781111

Abstract

The case of a 20-week fetus is reported with almost completely deficient ossification of the vertebral bodies and absent ossification of several long bones. This could be a unique skeletal dysplasia or the most severe end of the atelosteogenesis spectrum.

摘要

据报道，一名20周大的胎儿椎体几乎完全缺乏骨化，几根长骨也未出现骨化。这可能是一种独特的骨骼发育异常，或者是atelosteogenesis谱系中最严重的情况。