| Literature DB >> 16531740 |
Ellen R A Thomas1, Emma L Wakeling, Frances R Goodman, John C Dickinson, Christine M Hall, Angela F Brady.
Abstract
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.Entities:
Mesh:
Year: 2006 PMID: 16531740 DOI: 10.1097/01.mcd.0000194406.85052.de
Source DB: PubMed Journal: Clin Dysmorphol ISSN: 0962-8827 Impact factor: 0.816