SYNDROME OF MICROCEPHALY, BRACHMANN-DELANGE-LIKE FACIAL CHANGES, SEVERE METATARSUS-ADDUCTUS, AND DEVELOPMENTAL DELAY - MILD BRACHMANN-DELANGE SYNDROME

被引：12

作者：

HALAL, F

SILVER, K

机构：

[1] MCGILL UNIV,MONTREAL CHILDRENS HOSP,DEPT NEUROL,MONTREAL H3H 1P3,QUEBEC,CANADA

[2] UNIV MONTREAL,HOP NOTRE DAME,DEPT PEDIAT,MONTREAL H3C 3J7,QUEBEC,CANADA

[3] UNIV MONTREAL,HOP ST JUSTINE,MONTREAL H3T 1C5,QUEBEC,CANADA

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1992年 / 42卷 / 03期

关键词：

GROWTH RETARDATION; MICROCEPHALY; FACIAL ANOMALIES; METATARSUS-ADDUCTUS; DEVELOPMENTAL DELAY; UNUSUAL DERMATOGLYPHICS; AUTOSOMAL DOMINANT INHERITANCE; MILD BRACHMANN-DELANGE SYNDROME;

D O I：

10.1002/ajmg.1320420328

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We report on 4 individuals (3 sibs and their father) with a syndrome of growth retardation, microcephaly, minor facial anomalies reminiscent of a mild Brachmann-de Lange syndrome (BDLS), severe metatarsus adductus, developmental delay, and unusual dermatoglyphics. The syndrome, which seems to be inherited as an autosomal dominant trait with variable expressivity, resembles mild BDLS.

引用

页码：381 / 386

页数：6

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