Dental and maxillofacial signs in Leri-Weill dyschondrosteosis

One of the most common causes of short stature is a defect of the short stature homeobox-containing (SHOX) gene, which is located in the pseudoautosomal region 1, on the distal end of the short arm of the Xp22.33 and Yp11.32 chromosomes (1). Greater than 300 different mutations in the SHOX gene responsible for short stature syndrome have been described (1,2). The phenotypic expression of SHOX haploinsufficiency is remarkably varied. The following three typical clinical presentations, from least to most severe, are described: idiopathic short stature without skeletal malformations, Leri-Weill dyschondrosteosis (LWD) and Langer mesomelic dysplasia, which is thought to represent the homozygous form of Léri-Weill dyschondrosteosis (3,4).

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