KAUFFMAN OCULOCEREBROFACIAL SYNDROME IN A GIRL OF 15 YEARS

被引：9

作者：

BRISCIOLI, V ^{[1
]}

MANOUKIAN, S ^{[1
]}

SELICORNI, A ^{[1
]}

LIVINI, E ^{[1
]}

LALATTA, F ^{[1
]}

机构：

[1] UNIV MILAN,CLIN PEDIAT 2,MILAN,ITALY

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1995年 / 58卷 / 01期

关键词：

MENTAL RETARDATION; OCULAR ANOMALIES; SKELETAL ANOMALIES; AUTOSOMAL RECESSIVE;

D O I：

10.1002/ajmg.1320580106

中图分类号：

Q3 [遗传学];

学科分类号：

071007 [遗传学]; 090102 [作物遗传育种];

摘要：

Kaufman oculocerebrofacial syndrome (KOS) is a rare autosomal recessive disorder characterized by severe mental retardation, microcephaly, long narrow face, ocular anomalies, and long thin hands and feet. To our knowledge only 8 cases have been reported so far, diagnosed at a mean age of 10 years. We report on a girl who was diagnosed at 15 years. Further phenotypic delineation is needed to improve diagnosis of this syndrome early in life. (C) 1995 Wiley-Liss, Inc.

引用

页码：21 / 23

页数：3