FURTHER DELINEATION OF COSTELLO SYNDROME

被引：35

作者：

TEEBI, AS ^{[1
]}

SHAABANI, IS ^{[1
]}

机构：

[1] MUBARAK AL KABEER HOSP,DEPT PEDIAT,KUWAIT,KUWAIT

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1993年 / 47卷 / 02期

关键词：

PAPILLOMATA; HYPERKERATOSIS; MENTAL RETARDATION; ECTODERMAL DYSPLASIA; COSTELLO SYNDROME;

D O I：

10.1002/ajmg.1320470204

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We report on a 6-year-old girl with Costello syndrome. Main manifestations included poor postnatal growth, relative macrocephaly, curly hair, distinct ''coarse'' face, mild mental retardation, happy and sociable personality, loose dark skin particularly of hands and feet, acanthosis nigricans, thin deep set nails, enamel hypoplasia of teeth, and hyperextensible joints. The absence to date of perioral and nasal papillomata in this girl suggests that Costello syndrome is clinically recognizable even before appearance of such papillomata. Manifestations are compared to the four previously reported sporadic cases. (C) 1993 Wiley-Liss, Inc.

引用

页码：166 / 168

页数：3