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.