双侧臂部缺如、面部裂隙、脑膨出、眼眶囊肿和脐膨出：一种逐渐受到关注的复发性胎儿畸形模式。

Bilateral brachial amelia, facial clefts, encephalocele, orbital cyst and omphalocele: a recurrent fetal malformation pattern coming into focus.

作者信息

Froster U G, Briner J, Zimmermann R, Huch R, Huch A

机构信息

Department of Obstetrics, University Hospital Zürich, Switzerland.

出版信息

Clin Dysmorphol. 1996 Apr;5(2):171-4. doi: 10.1097/00019605-199604000-00010.

DOI:10.1097/00019605-199604000-00010

PMID:8723568

Abstract

Ultrasonographic and pathoanatomical features of a fetus displaying bilateral brachial amelia, complex facial clefting, encephalocele and omphalocele are described. The findings are compared with the few previously published cases. Bilateral brachial amelia with complex other organ malformations in previable fetuses may be more frequently diagnosed with improving prenatal ultrasonography.

摘要

描述了一名胎儿的超声检查和病理解剖特征，该胎儿表现为双侧臂部无肢畸形、复杂面部裂隙、脑膨出和脐膨出。将这些发现与之前发表的少数病例进行了比较。随着产前超声检查技术的提高，在可存活前胎儿中出现的双侧臂部无肢畸形合并其他复杂器官畸形可能会更频繁地被诊断出来。