Mild case of Curry-Jones syndrome.
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.
Clinical Genetics, Kennedy-Galton Centre, NW Thames Regional Genetics Service, Harrow, UK. ellen.thomas@imperial.ac.uk
Ellen R A
ER
Thomas
Emma L
EL
Wakeling
Frances R
FR
Goodman
John C
JC
Dickinson
Christine M
CM
Hall
Angela F
AF
Brady
D000015:Abnormalities, Multiple / Q000473:pathology*; D002675:Child, Preschool; D005532:Foot Deformities, Congenital / Q000150:complications / Q000601:surgery; D006228:Hand Deformities, Congenital / Q000150:complications / Q000601:surgery; D006801:Humans; D007223:Infant; D008297:Male; D011300:Preoperative Care; D013577:Syndrome