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Prevalence of mutations in the short stature homeobox containing gene (SHOX) in Madelung deformity of childhood
  1. S F Flanagan1,2,
  2. C F J Munns2,3,
  3. M Hayes4,
  4. B Williams5,
  5. M Berry5,
  6. D Vickers6,
  7. E Rao7,
  8. G A Rappold7,
  9. J A Batch2,3,4,
  10. V J Hyland1,8,
  11. I A Glass2,9
  1. 1Department of Surgery, University of Queensland, Brisbane, Australia
  2. 2Department of Paediatrics and Child Health, University of Queensland, Brisbane, Australia
  3. 3Department of Endocrinology and Diabetes, Royal Children’s Hospital, Brisbane, Australia
  4. 4Endocrine and Diabetes Research Unit, Royal Children’s Hospital Foundation Research Centre, Royal Children’s Hospital, Brisbane, Australia
  5. 5Cytogenetics Unit, Mater Laboratory Services, Brisbane, Australia
  6. 6Department of Orthopaedics, Royal Children’s Hospital, Brisbane, Australia
  7. 7Institute of Human Genetics, University of Heidelberg, Germany
  8. 8Molecular Genetics Laboratory, Queensland Health Pathology Service, Royal Brisbane Hospitals Campus, Brisbane, Australia
  9. 9Queensland Clinical Genetics Service, Royal Children’s Hospital, Brisbane, Australia
  1. Correspondence to:
 Dr I A Glass, Division of Genetics and Development, Department of Pediatrics, University of Washington, CHRMC, CH-25, 4800 Sand Point Way NE, Seattle, WA 98112, USA;
 iglass{at}chmc.org

https://doi.org/10.1136/jmg.39.10.758

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    In 1878, Madelung described a painful, disabling, and deforming abnormality of the forearm in which misalignment of the bones of the wrist and forearm resulted in a “spontaneous forward subluxation of the wrist”.1 A familial form of a bilateral wrist deformity resulting from dorsal dislocation of the ulnar head, accompanied by mesomelic short stature was first reported in 1929 and later termed Leri-Weill dyschondrosteosis (LWD).2–4 In LWD, the Madelung deformity results from dysplasia located at the medial aspect of the distal radial growth plate, where narrowing and premature fusion of the physis occurs.5 This dysplasia leads to differential growth rates between the lesion and the distal lateral radial physis impeding growth and pulling the lateral radial epiphysis off line as the remaining physis advances.6 In its fully developed form, Madelung deformity leads to shortening and bowing (sometimes marked) of the radius and the involvement of other epiphyses in this disorder results in mesomelia.7 Typically, Madelung deformity does not appear until mid-childhood but is usually preceded by radiological signs.8 Other localised lesions in the ulnar-palmar zone of the distal radius can result in differential growth rates leading to Madelung deformity including Turner, Olliers, and multiple exostoses syndromes and environmental causes.3,4,9

    Key points

    • Haploinsufficiency of the short stature homeobox containing gene (SHOX), which maps to the pseudoautosomal region (PAR1) of the X and Y chromosomes, is the molecular basis of Leri-Weill dyschondrosteosis (LWD). We undertook the mutation and expression analysis of this gene in a cohort of 18 probands with bilateral Madelung deformity (BMD).

    • Madelung deformity occurs as the result of dysplasia of the distal radial growth plate and is a distinctive clinical feature of LWD. In our cohort, comprising both familial and sporadic BMD probands, mutations in SHOX were identified in …

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