Severe, atypical form of dyschondrosteosis (report of two cases).

UNLABELLED: We report a mother and her son with unique mesomelic dysplasia. The mesomelic shortening in the upper extremities presents features of Leri-Weill syndrome (dyschondrosteosis) (OMIM 127300), that of the lower extremities is consistent with Langer mesomelic dysplasia (OMIM 249700). Molecular studies showed a heterozygous short stature homeobox gene ( SHOX)deletion in both patients. A second genetic defect in the other SHOX allele was not found.
CONCLUSION: Our study broadens the phenotypic spectrum associated with short stature homeobox gene functional haploinsufficiency.