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Semin Musculoskelet Radiol 2009; 13(3): 236-254
DOI: 10.1055/s-0029-1237691
© Thieme Medical Publishers

Imaging of SHOX-Associated Anomalies

Harpal K. Gahunia1 , 2 , Paul S. Babyn1 , 2 , Susan Kirsch3 , Roberto Mendoza-Londono4
  • 1Department of Diagnostic Imaging, The Hospital for Sick Children, Toronto, Ontario, Canada
  • 2Department of Medical Imaging, University of Toronto, Toronto, Ontario, Canada
  • 3Division of Endocrinology, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada
  • 4Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada
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Publication History

Publication Date:
01 September 2009 (online)

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ABSTRACT

Human growth is a multifactorial trait influenced by environmental, hormonal, and genetic factors. Although it is clear that multiple factors contribute to an individual's final height and limb development, genetic factors play a crucial role. One such gene is the short stature homeobox (SHOX) containing gene. Knowledge about the SHOX gene has rapidly increased since its discovery in 1997, and we now know that SHOX haploinsufficiency affects the development of the extremities and is an important cause of short stature. Currently, SHOX mutations occur with an estimated incidence of roughly 1 in 1000 newborns, making mutations of this gene one of the most common genetic defects associated with growth failure and skeletal deformities. Heterozygous mutations of SHOX have been implicated in patients with Madelung's deformity, Leri-Weill dyschondrosteosis (77%), Turner's syndrome (66%), and idiopathic short stature (3%), and homozygous mutations of SHOX gene have been identified in patients with Langer's mesomelic dysplasia (100%). Recognition of the early radiographic features encountered in SHOX haploinsufficiency maybe pivotal for the diagnosis. In this article, we summarize the genetic and clinical features of the various SHOX haploinsufficiency-associated disorders. We present the characteristic imaging features of these disorders and the results of growth hormone treatment trials.

KEYWORDS

SHOX gene - Langer's mesomelic dysplasia - Leri-Weill dyschondrosteosis - Madelung's deformity - idiopathic short stature - Turner's syndrome

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Harpal K GahuniaM.D. 

Department of Diagnostic Imaging, The Hospital for Sick Children

555 University Ave., Toronto, Ontario, Canada M5G 1X8

Email: harpal.gahunia@sickkids.ca

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