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Article

The Hunter-MacDonald syndrome with expanded phenotype including risk of meningioma: an update and review.

American journal of medical genetics. Part A - 1 Jan 2008

Armstrong Linlea, Graham Gail E, Schimke R Neil, Collins Debra L, Kirse Daniel J, Costello Fiona, Ardinger Holly H

Abstract excerpt

Hunter-MacDonald syndrome (HMS) is a rare, autosomal dominant skeletal dysplasia with multiple malformations. The skeletal manifestations of HMS include short stature, scoliosis, epiphyseal dysplasia with early osteoarthritis leading to joint replacement, prominent humeral insertions for the deltoids, camptodactyly, subluxation of the thumbs, and malformed feet. Craniofacial manifestations include normal head...

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Identifiers

PMID: 17972300
DOI: 10.1002/ajmg.a.31998

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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