Autosomal recessive Oliver-McFarlane syndrome: Retinitis pigmentosa, short stature (GH deficiency), trichomegaly, and hair anomalies or CPD syndrome (chorioretinopathy-pituitary dysfunction)

被引：11

作者：

Haimi, M

Gershoni-Baruch, R

机构：

[1] Technion Israel Inst Technol, Dept Human Genet, Rambam Med Ctr, IL-31096 Haifa, Israel

[2] Technion Israel Inst Technol, Bruce & Ruth Rappaport Fac Med, IL-31096 Haifa, Israel

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2005年 / 138A卷 / 03期

关键词：

hair anomalies; developmental delay; hypopituitarism; trichomegaly; short stature; autosomal recessive inheritance; chorioretinopathy; retinitis pigmentosa;

D O I：

10.1002/ajmg.a.30953

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We describe a brother and sister with retinitis pigmentosa (RP), growth failure, long eyelashes, and sparse hair. They were born to young healthy consanguineous parents and presented at birth with IUGR. Evolving pigmentary retinopathy was diagnosed at the age of 5 years. A similar condition (Oliver-McFarlane) syndrome was reported previously. Our two sibs confirm the existence of this autosomal recessive syndrome. (c) 2005 Wiley-Liss, Inc.

引用

页码：268 / 271

页数：4