Hunter-McAlpine syndrome: report of a third family.
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.
Adès
L C
LC
Department of Medical Genetics, Adelaide Children's Hospital, South Australia.
Morris
L L
LL
Simpson
D A
DA
Haan
E A
EA
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