新发现的肢体/骨盆发育不全/发育不全综合征：一名贝都因患者的报告及综述
The newly recognised limb/pelvis-hypoplasia/aplasia syndrome: report of a Bedouin patient and review.
作者信息
Farag T I, al-Awadi S A, Marafie M J, Bastaki L, al-Othman S A, Mohammed F M, AlSuliman I S, Murthy D S
机构信息
Kuwait Medical Genetics Centre, Maternity Hospital, Sulibikhat.
出版信息
J Med Genet. 1993 Jan;30(1):62-4. doi: 10.1136/jmg.30.1.62.
Abstract
A Bedouin infant born to consanguineous parents and grandparents is reported. She had Müllerian aplasia and the phenotypic features of the limb/pelvis-hypoplasia/aplasia syndrome (MIM 276820). Phenotypic variability of this newly recognised syndrome is briefly discussed.
摘要
据报道，一名贝都因婴儿的父母和祖父母为近亲结婚。她患有苗勒氏管发育不全，并具有肢体/骨盆发育不全/发育不良综合征（MIM 276820）的表型特征。本文简要讨论了这种新发现综合征的表型变异性。
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