Related Experiment Video
Updated: Aug 17, 2026

Establishment and Evaluation of a Sheep Model of Full-thickness Osteochondral Defect
Published on: April 14, 2026
Severe, atypical form of dyschondrosteosis (report of two cases)
Tadeusz Bieganski1, Krzysztof Bik, Valerie Cormier-Daire
1Department of Radiology, Polish Mother's Memorial Hospital Research Institute, Lodz, Poland.
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.
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