肩胛骨骨不全(Kosenow综合征,骨盆-肩部发育不良)谱:新增3例。

A M Elliott, E R Roeder, D R Witt, D L Rimoin, R S Lachman
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引用次数: 10

摘要

我们报告了3例(2个兄弟姐妹和一个无关的成年女性)患有肩胛骨骨不全(Kosenow综合征,骨盆-肩部发育不良)的患者,每个患者都有先前文献未报道的其他异常。临床频谱esta实体讨论连同可能的遗传模式。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Scapuloiliac dysostosis (Kosenow syndrome, pelvis-shoulder dysplasia) spectrum: three additional cases.

We report on 3 patients (2 sibs and an unrelated adult woman) with scapuloiliac dysostosis (Kosenow syndrome, Pelvis-Shoulder Dysplasia) each of whom has additional abnormalities not previously reported in the literature. The clinical spectrum of this entity is discussed along with possible inheritance patterns.

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