title: Mental retardation, postaxial polydactyly, phalangeal hypoplasia, 2-3 toe syndactyly, unusual face, uncombable hair: new syndrome?
abstract: We report on a boy with unique somatic and skeletal manifestations. The syndrome consists of mental retardation, postaxial polydactyly, phalangeal hypoplasia, 2-3 toe syndactyly, abnormal face and uncombable hair. A younger sib who died soon after the birth was probably also affected.
authors.affiliation: Department of Radiology, Royal Alexandra Hospital for Children, Sydney, Australia.
authors.forename: K
authors.initials: K
authors.lastname: Kozlowski
authors.forename: M
authors.initials: M
authors.lastname: Krajewska
mesh_terms: D000293:Adolescent; D001842:Bone and Bones / Q000002:abnormalities / Q000000981:diagnostic imaging; D005145:Face / Q000002:abnormalities*; D005385:Fingers / Q000002:abnormalities*; D006197:Hair / Q000002:abnormalities* / Q000648:ultrastructure; D006801:Humans; D008607:Intellectual Disability / Q000150:complications / Q000175:diagnosis*; D008297:Male; D008855:Microscopy, Electron, Scanning; D017689:Polydactyly / Q000150:complications / Q000175:diagnosis*; D011859:Radiography; D013576:Syndactyly / Q000150:complications / Q000175:diagnosis*; D013577:Syndrome