Our patients presented with mesomelic short stature together with the classical X-ray findings of Madelung deformity over the wrists, SHOX related haploinsufficiency was highly suspected. Therefore multiplex ligation-dependent probe amplification (MLPA) testing of the SHOX gene was performed. A heterozygous interstitial deletion of at least 766.5 kb downstream of the SHOX gene at 594.7 kb from Xp-telomere was detected in both girls. The diagnosis of Léri-Weill dyschondrosteosis (LWD) was substantiated. The deletion was inherited from their father.
展开▼
