无膈疝的弗林斯综合征？

Fryns syndrome without diaphragmatic hernia?

作者信息

Willems P J, Keersmaekers G H, Dom K E, Colpaert C, Schatteman E, Vergote I B, Dumon J E

机构信息

Department of Medical Genetics, University of Antwerp-U.I.A., Wilrijk, Belgium.

出版信息

Am J Med Genet. 1991 Nov 1;41(2):255-7. doi: 10.1002/ajmg.1320410225.

DOI:10.1002/ajmg.1320410225

PMID:1785645

Abstract

We report on a child with Fryns syndrome including lung hypoplasia, characteristic facial appearance, cleft palate, cardiac anomaly, distal limb abnormalities, absent nipples, bicornuate uterus and early death. In contrast to most patients with Fryns syndrome, diaphragmatic hernia was absent in our patient. However, the diaphragm was reduced to a fibrous web with reduced muscular component.

摘要

我们报告了一名患有弗林斯综合征的儿童，其症状包括肺发育不全、特征性面容、腭裂、心脏异常、肢体远端畸形、乳头缺失、双角子宫和早夭。与大多数弗林斯综合征患者不同的是，我们的患者没有膈疝。然而，膈肌已退化为纤维网，肌肉成分减少。