DWARFISM WITH GLOOMY FACE - A NEW SYNDROME WITH FEATURES OF 3-M SYNDROME

被引：19

作者：

LEMERRER, M

BRAUNER, R

MAROTEAUX, P

机构：

[1] HOP NECKER ENFANTS MALAD,SERV ENDOCRINOL PEDIAT,F-75743 PARIS 15,FRANCE

[2] HOP NECKER ENFANTS MALAD,CNRS,URA 584,F-75743 PARIS 15,FRANCE

来源：

JOURNAL OF MEDICAL GENETICS | 1991年 / 28卷 / 03期

关键词：

D O I：

10.1136/jmg.28.3.186

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Nine children with primordial dwarfism are described and a new syndrome is delineated. The significant features of this syndrome include facial dysmorphism with gloomy face and very short stature, but no radiological abnormality or hormone deficiency. Mental development is normal. The mode of inheritance seems to be autosomal recessive because of consanguinity in three of the four sibships. Some overlap with the 3-M syndrome is discussed but the autonomy of the gloomy face syndrome seems to be real.

引用

页码：186 / 191

页数：6

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