Pediatric Radiology

, Volume 38, Issue 2, pp 209–215

Cushing proximal symphalangism and the NOG and GDF5 genes

  • Sara K. Plett
  • Walter E. Berdon
  • Robert A. Cowles
  • Rahmi Oklu
  • John B. Campbell
Historical Perspective

DOI: 10.1007/s00247-007-0675-y

Cite this article as:
Plett, S.K., Berdon, W.E., Cowles, R.A. et al. Pediatr Radiol (2008) 38: 209. doi:10.1007/s00247-007-0675-y

Abstract

Proximal symphalangism (SYM1) is an autosomal-dominant developmental disorder of joint fusion. This disorder is best known from famous historical descriptions of two large kindred: Cushing’s description in 1916 of the “straight-fingered” Brown family of Virginia and Drinkwater’s description in 1917 of the British Talbot family of noble blood, descended from the English war hero John Talbot, the first Earl of Shrewsbury (1388–1453). Recent genetic studies link this phenotype to expression of abnormal genes at future joint sites: too little expression of NOG, a growth antagonist, or overexpression of GDF5, a growth agonist, results in cartilage overgrowth and bony fusion. This review unites in depth the first historical accounts of SYM1 with a clinical description and reviews the current understanding of the molecular mechanism underlying what is likely the oldest dominant trait ever studied.

Keywords

Symphalangism Noggin and GDF5 Children 

Copyright information

© Springer-Verlag 2007

Authors and Affiliations

  • Sara K. Plett
    • 1
  • Walter E. Berdon
    • 2
  • Robert A. Cowles
    • 3
  • Rahmi Oklu
    • 2
  • John B. Campbell
    • 4
  1. 1.College of Physicians and SurgeonsColumbia UniversityNew YorkUSA
  2. 2.Department of RadiologyColumbia Presbyterian Medical CenterNew YorkUSA
  3. 3.Division of Pediatric Surgery, Department of SurgeryMorgan Stanley Children’s Hospital of New York-PresbyterianNew YorkUSA
  4. 4.Department of RadiologyArnold Palmer Hospital for ChildrenOrlandoUSA

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