Mild case of Curry-Jones syndrome

被引：4

作者：

Thomas, Ellen R. A. ^{[1
]}

Wakeling, Emma L. ^{[1
]}

Goodman, Frances R. ^{[2
]}

Dickinson, John C. ^{[3
]}

Hall, Christine M. ^{[2
]}

Brady, Angela F. ^{[1
]}

机构：

[1] Kennedy Galton Ctr, NW Thames Reg Genet Serv, Harrow, Middx, England

[2] Great Ormond St Hosp Sick Children, London, England

[3] Wexham Pk Hosp, Wexham, Berks, England

来源：

CLINICAL DYSMORPHOLOGY | 2006年 / 15卷 / 02期

关键词：

abnormal hair growth; atrophic skin; Curry-Jones syndrome; polydactyly; soft tissue swellings; syndactyly;

D O I：

10.1097/01.mcd.0000194406.85052.de

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

The main features of the Curry-Jones syndrome are syndactyly, pre-axial polydactyly, craniosynostosis, absent corpus callosum, skin anomalies (characteristic pearly white areas that become scarred and atrophic, with increased hair growth), colobomas or microphthalmia and intestinal obstruction because of multiple benign myofibromata of the large bowel. Developmental delay occurs in half of the reported patients. The patient reported here has a mild form of the condition with polysyndactyly and skin changes but no craniosynostosis, bowel problems or developmental delay.

引用

页码：115 / 117

页数：3