Short stature, sensorineural deafness, ocular abnormalities and severe mental retardation in two siblings.: A new syndrome?

被引：3
作者：
Sinnerbrink, IB
Adés, LC
机构：
[1] Childrens Hosp Westmead, Western Sydney Genet Program, Dept Clin Genet, Sydney, NSW, Australia
[2] Univ Sydney, Discipline Paediat & Child Hlth, Sydney, NSW 2006, Australia
来源：
CLINICAL DYSMORPHOLOGY | 2004年 / 13卷 / 03期
关键词：
short stature; sensorineural deafness; coloboma; keratoconus; mental retardation;
D O I：
10.1097/01.mcd.0000115200.74297.cf
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 craniofacial dysmorphism, short stature, relative obesity, sensorineural deafness, multiple pigmented naevi and severe mental retardation. One sibling had keratoconus and the other had an iris coloboma. Dysmorphic features included brachycephaly, hypotelorism, small mouth, thin lips, pterygium colli, broad chest, widely spaced nipples and cutaneous second and third toe syndactyly. The children demonstrate some features of Noonan syndrome, but we believe that they have a different and distinctive phenotype. We have reviewed similar cases in the literature and discuss these in the context of our cases, who may have a previously undescribed syndrome. (C) 2004 Lippincott Williams Wilkins.
引用
收藏
页码：173 / 177
页数：5
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