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  • Title: Hunter-McAlpine syndrome: report of a third family.
    Author: Adès LC, Morris LL, Simpson DA, Haan EA.
    Journal: Clin Dysmorphol; 1993 Apr; 2(2):123-30. PubMed ID: 8281273.
    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.
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