title: Congenital emphysema, cryptorchidism, penoscrotal web, deafness, and mental retardation--a new syndrome?
abstract: 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.
authors.affiliation: Department of Human Genetics, Newcastle-upon-Tyne, UK. slynch@hgmp.mrc.ac.uk
authors.forename: S A
authors.initials: SA
authors.lastname: Lynch
authors.forename: K M
authors.initials: KM
authors.lastname: Bushby
mesh_terms: 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