Hunter-McAlpine syndrome: report of a third family

L C Adès; L L Morris; D A Simpson; E A Haan

Hunter-McAlpine syndrome: report of a third family

Clin Dysmorphol. 1993 Apr;2(2):123-30.

Authors

L C Adès¹, L L Morris, D A Simpson, E A Haan

Affiliation

¹ Department of Medical Genetics, Adelaide Children's Hospital, South Australia.

PMID: 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.

Publication types

Case Reports

MeSH terms

Abnormalities, Multiple / diagnostic imaging
Abnormalities, Multiple / genetics*
Adult
Body Height / genetics
Bone and Bones / abnormalities
Bone and Bones / diagnostic imaging
Child
Craniosynostoses / genetics
Face / abnormalities
Female
Foot Deformities, Congenital / diagnostic imaging
Foot Deformities, Congenital / genetics
Hand Deformities, Congenital / diagnostic imaging
Hand Deformities, Congenital / genetics
Humans
Intellectual Disability / genetics
Radiography
Syndrome