Fact-sheet: Dyschondrosteosis
Updated on 06/23/2020 at 9:12 AM
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Definition
Léri-Weill dyschondrosteosis is a skeletal dysplasia characterized by disproportionate short stature, due to haploinsufficiency of the gene containing a sequence involved in height control (SHOX).
Clinical features
Short stature present from birth with mesomelic shortening of the limbs.
Bilateral wrist deformity, characterized by short, bowed radii and ulnae with dorsal dislocation of the distal ulna and limitation of wrist and Elbow motion.
Radiography
Madelung deformity++: characterized by a malformation affecting both wrists, with short, curved radii and elongated ulnae, resulting in subluxation of the latter.
Differential diagnosis
- other SHOX-related haploinsufficiency syndromes
- related syndromes such as Turner syndrome and distal Xp monosomy