LETTER TO JMG

Prevalence of mutations in the short stature homeobox containing gene (SHOX) in Madelung deformity of childhood

S F Flanagan^1,2, C F J Munns^2,3, M Hayes⁴, B Williams⁵, M Berry⁵, D Vickers⁶, E Rao⁷, G A Rappold⁷, J A Batch^2,3,4, V J Hyland^1,8, I A Glass^2,9

¹ Department of Surgery, University of Queensland, Brisbane, Australia
² Department of Paediatrics and Child Health, University of Queensland, Brisbane, Australia
³ Department of Endocrinology and Diabetes, Royal Children’s Hospital, Brisbane, Australia
⁴ Endocrine and Diabetes Research Unit, Royal Children’s Hospital Foundation Research Centre, Royal Children’s Hospital, Brisbane, Australia
⁵ Cytogenetics Unit, Mater Laboratory Services, Brisbane, Australia
⁶ Department of Orthopaedics, Royal Children’s Hospital, Brisbane, Australia
⁷ Institute of Human Genetics, University of Heidelberg, Germany
⁸ Molecular Genetics Laboratory, Queensland Health Pathology Service, Royal Brisbane Hospitals Campus, Brisbane, Australia
⁹ Queensland Clinical Genetics Service, Royal Children’s Hospital, Brisbane, Australia

Correspondence to:
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@chmc.org

Keywords: SHOX; Leri-Weill dyschondrosteosis; Madelung deformity

Abbreviations: LWD, Leri-Weill dyschonrdosteosis; BMD, bilateral Madelung deformity; SDS, standard deviation scores; BMF, bone marrow fibroblasts; SNP, single nucleotide polymorphism; PAR, pseudoautosomal region

The first 150 words of the full text of this article appear below.

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 . . . [Full text of this article]

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