Congenital emphysema, cryptorchidism, penoscrotal web, deafness, and mental retardation--a new syndrome?
The clinical features of an 8-year-old boy with congenital emphysema, cryptorchidism, a penoscrotal web, deafness, constipation and mental retardation are described. Review of the literature did not reveal another report of this unusual combination of features.
Lynch
S A
SA
Department of Human Genetics, Newcastle-upon-Tyne, UK. slynch@hgmp.mrc.ac.uk
Bushby
K M
KM
D000015:Abnormalities, Multiple; D002648:Child; D003456:Cryptorchidism / Q000150:complications*; D003638:Deafness / Q000150:complications / Q000151:congenital*; D004646:Emphysema / Q000150:complications / Q000151:congenital*; D006801:Humans; D008607:Intellectual Disability / Q000150:complications*; D008297:Male; D010413:Penis / Q000002:abnormalities*; D012611:Scrotum / Q000002:abnormalities*; D013577:Syndrome