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Hunter-McAlpine syndrome: report of a third family
L C Adès1, L L Morris, D A Simpson
1Department of Medical Genetics, Adelaide Children's Hospital, South Australia.
Clinical Dysmorphology
|April 1, 1993
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.