OPITZ TRIGONOCEPHALY SYNDROME

被引：18

作者：

HAAF, T ^{[1
]}

HOFMANN, R ^{[1
]}

SCHMID, M ^{[1
]}

机构：

[1] UNIV WURZBURG, DEPT HUMAN GENET, W-8700 WURZBURG, GERMANY

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1991年 / 40卷 / 04期

关键词：

CONGENITAL HEART DEFECT; C-SYNDROME; EISENMENGER DISEASE; MENTAL RETARDATION; OPTIZ TRIGONOCEPHALY; POLYSYNDACTYLY; AUTOSOMAL RECESSIVE INHERITANCE;

D O I：

10.1002/ajmg.1320400413

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We report on a patient with Opitz trigonocephaly syndrome. The girl was the firstborn child of consanguineous parents and had trigonocephaly, apparent hypertelorism, upslanted palpebral fissures, strabismus, small nose with broad root, abnormally modeled ears, high palate, short neck with loose skin, polysyndactyly, and prominent clitoris and labia majora. In addition, a complex cardiovascular defect (Eisenmenger disease) was observed. The patient was mentally retarded.

引用

页码：444 / 446

页数：3

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