Clinical Report

The Hunter–MacDonald syndrome with expanded phenotype including risk of meningioma: An update and review†

  1. Linlea Armstrong1,*,
  2. Gail E. Graham2,
  3. R. Neil Schimke3,
  4. Debra L. Collins4,
  5. Daniel J. Kirse5,
  6. Fiona Costello6,
  7. Holly H. Ardinger7

Article first published online: 30 OCT 2007

DOI: 10.1002/ajmg.a.31998

Issue

American Journal of Medical Genetics Part A

American Journal of Medical Genetics Part A

Volume 146A, Issue 1, pages 83–92, 1 January 2008

Additional Information

How to Cite

Armstrong, L., Graham, G. E., Schimke, R. N., Collins, D. L., Kirse, D. J., Costello, F. and Ardinger, H. H. (2008), The Hunter–MacDonald syndrome with expanded phenotype including risk of meningioma: An update and review. Am. J. Med. Genet., 146A: 83–92. doi: 10.1002/ajmg.a.31998

Author Information

  1. 1

    Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada

  2. 2

    Department of Pediatrics, University of Ottawa, Ottawa, Ontario, Canada

  3. 3

    Departments of Medicine and Pediatrics, Kansas University Medical Center, Kansas City, Kansas

  4. 4

    Department of Medicine, Kansas University Medical Center, Kansas City, Kansas

  5. 5

    Department of Otolaryngology-Head and Neck Surgery, Wake Forest University, Winston-Salem, North Carolina

  6. 6

    Department of Neurosurgery, University of Ottawa, Ottawa, Ontario, Canada

  7. 7

    Section of Medical Genetics and Molecular Medicine, Children's Mercy Hospitals and Clinics, Kansas City, Missouri

*Provincial medical genetics programme, The Women's and Children's Health Centre of British Columbia, C234-4500 Oak Street, Vancouver BC V6H 3N1, Canada.

  1. †

    How to cite this article: Armstrong L, Graham GE, Schimke RN, Collins DL, Kirse DJ, Costello F, Ardinger HH. 2007. The Hunter–MacDonald syndrome with expanded phenotype including risk of meningioma: An update and review. Am J Med Genet Part A 146A:83–92.

Publication History

  1. Issue published online: 19 DEC 2007
  2. Article first published online: 30 OCT 2007
  3. Manuscript Accepted: 11 JUN 2007
  4. Manuscript Received: 5 DEC 2006

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Keywords:

  • multiple epiphyseal dysplasia;
  • familial meningioma;
  • low frequency hearing loss;
  • scoliosis;
  • camptodactyly;
  • thumb subluxation

Abstract

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 circumference, tall forehead, bitemporal narrowing, ptosis, short palpebral fissures, and short philtrum. Decreased hearing acuity, transient cranial nerve palsies, congenital heart defects, and menigioma are also reported. Herein, we present two cases, and, through review of the manifestations of HMS in affected and at-risk family members, we have observed that predisposition to brain tumor is a cardinal feature of this condition. © 2007 Wiley-Liss, Inc.

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