title: Hunter-McAlpine syndrome: report of a third family.
abstract: A 9-year-old girl with craniosynostosis, facial dysmorphism, mental retardation, proportionate short stature and acral abnormalities is described, in whom both clinical and radiological features support a diagnosis of Hunter-McAlpine syndrome. Her mother is mildly affected, confirming previous evidence that this syndrome is dominantly inherited and shows considerable phenotypic variability within families.
authors.affiliation: Department of Medical Genetics, Adelaide Children's Hospital, South Australia.
authors.forename: L C
authors.initials: LC
authors.lastname: Adès
authors.forename: L L
authors.initials: LL
authors.lastname: Morris
authors.forename: D A
authors.initials: DA
authors.lastname: Simpson
authors.forename: E A
authors.initials: EA
authors.lastname: Haan
mesh_terms: D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging / Q000235:genetics*; D000328:Adult; D001827:Body Height / Q000235:genetics; D001842:Bone and Bones / Q000002:abnormalities / Q000000981:diagnostic imaging; D002648:Child; D003398:Craniosynostoses / Q000235:genetics; D005145:Face / Q000002:abnormalities; D005260:Female; D005532:Foot Deformities, Congenital / Q000000981:diagnostic imaging / Q000235:genetics; D006228:Hand Deformities, Congenital / Q000000981:diagnostic imaging / Q000235:genetics; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D011859:Radiography; D013577:Syndrome