FRYNS SYNDROME

被引：23

作者：

STRATTON, RF ^{[1
]}

YOUNG, RS ^{[1
]}

HEIMAN, HS ^{[1
]}

CARTER, JM ^{[1
]}

机构：

[1] BROOKE ARMY MED CTR,DEPT PEDIAT,FT SAM HOUSTON,TX 78234

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1993年 / 45卷 / 05期

关键词：

DIAPHRAGM EVENTRATION; DUODENAL ATRESIA; CLEFT LIP; TETRALOGY OF FALLOT; CAMPTODACTYLY; TRACHEOMALACIA; BRONCHOMALACIA; FRYNS SYNDROME;

D O I：

10.1002/ajmg.1320450507

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We report on a premature female infant with Fryns syndrome who had several less commonly reported anomalies. She had bilateral posterior eventration of the hemidiaphragms instead of the usual diaphragmatic defects with visceral herniation into the chest cavity. She also had a unilateral cleft lip, camptodactyly, duodenal atresia, tracheomalacia, bronchomalacia, and Tetralogy of Fallot.

引用

页码：562 / 564

页数：3

共 19 条

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[10] JELSEMA RD, 1991, AM J HUM GENET, V49, P220

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