NEW MENTAL-RETARDATION SYNDROME WITH HEARING IMPAIRMENT, DISTINCT FACIAL APPEARANCE, AND SKELETAL ANOMALIES

被引：0

作者：

FINUCANE, B ^{[1
]}

KURTZ, MB ^{[1
]}

SCOTT, CI ^{[1
]}

机构：

[1] ALFRED I DUPONT INST,WILMINGTON,DE 19899

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1992年 / 43卷 / 05期

关键词：

MENTAL RETARDATION; SYNDROME; HEARING IMPAIRMENT; SKELETAL ANOMALIES; DISTINCT FACIAL APPEARANCE;

D O I：

10.1002/ajmg.1320430518

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We present 2 unrelated children with a distinct pattern of anomalies, including mental retardation, hearing impairment, unusual facial appearance, and skeletal defects. Both children have severe behavior disturbance and hyperactivity. The characteristic facial findings include a broad mouth, broad nasal bridge, mildly anteverted nares with a fleshy nasal tip, and deep nasolabial folds. Skeletal findings include mild to moderate short stature, dysharmonic maturation of epiphyseal ossification centers in the hands, and mild scoliosis.

引用

页码：844 / 847

页数：4