SEVERE POSTAXIAL ACROFACIAL DYSOSTOSIS - AN ANATOMIC AND ANGIOGRAPHIC STUDY

被引：13

作者：

RODRIGUEZ, JI ^{[1
]}

PALACIOS, J ^{[1
]}

机构：

[1] HOSP LA PAZ,DEPT PATHOL,E-28046 MADRID,SPAIN

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1990年 / 35卷 / 04期

关键词：

acrofacial dysostosis; femoral hypoplasia; fibular hypoplasia; Genee-Wiedemann syndrome; limb arteriography; ulnar hypoplasia;

D O I：

10.1002/ajmg.1320350409

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We describe a severe case of postaxial acrofacial dysostosis syndrome [POADS] or Genee-Wiedemann syndrome in a stillborn female. The report includes an arteriographic and anatomic study of the limbs. Previously unreported findings such as hypoplasia of the femora, ossification defect of the ischium and pubis, bilobed tongue, and lung hypoplasia were noted. This case documents further variability in the POADS or Genee-Wiedemann syndrome.

引用

页码：490 / 492

页数：3

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