Mild case of Curry-Jones syndrome
| Autor: | Emma Wakeling, Ellen R A Thomas, Angela F. Brady, FR Goodman, John C Dickinson, Christine Hall |
|---|---|
| Rok vydání: | 2006 |
| Předmět: |
Male
Foot Deformities Congenital Curry Jones syndrome Preoperative care Microphthalmia Pathology and Forensic Medicine Craniosynostosis Preoperative Care medicine Humans Abnormalities Multiple Syndactyly Genetics (clinical) Hand deformity Polydactyly business.industry Infant General Medicine Anatomy Syndrome medicine.disease Polysyndactyly Child Preschool Pediatrics Perinatology and Child Health sense organs business Hand Deformities Congenital |
| Zdroj: | Clinical dysmorphology. 15(2) |
| ISSN: | 1473-5717 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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