纤维软骨生成

Fibrochondrogenesis.

作者信息

Kulkarni M L, Matadh Prakash S, Prabhu S P Praveen, Kulkarni Preeti M

机构信息

Department of Pediatrics, J.J.M. Medical College, Davangere, 577 004, Karnataka, India.

出版信息

Indian J Pediatr. 2005 Apr;72(4):355-357. doi: 10.1007/BF02724021.

DOI:10.1007/BF02724021

PMID:28386830

Abstract

Fibrochondrogenesis is a rare lethal short-limb skeletal dysplasia. Till now only fifteen cases have been reported since Lazzaroni-Fossati first described it in 1978. Hence reported a case of fibrochondrogenesis in a child born to a consanguineously married couple with characteristic physical and radiological features and discuss the incidence, inheritence, ultrasonographic, clinical, radiological and pathological characteristics of this disorder.

摘要

纤维软骨发育异常是一种罕见的致死性短肢骨骼发育不良。自1978年拉扎罗尼 - 福萨蒂首次描述以来，迄今为止仅报告了15例。本文报告了一对近亲结婚夫妇所生孩子患纤维软骨发育异常的病例，具有典型的体格和放射学特征，并讨论了该疾病的发病率、遗传方式、超声、临床、放射学和病理学特征。