Rafay suffers from acro coxo mesomelic
dysplasia, a rare inherited form of dwarfism, and is the only one in his family to have this condition.
Also noted was a rhizomelic and mesomelic
shortening of all extremities with palpable osseous deformities secondary to enchondromas, especially of the shoulders, hands, and lower extremities.
In this report, we discuss a 14-year-old girl with mesomelic short stature and bilateral Madelung deformities caused by LWD and describe the radiographic findings.
Clinically, she appeared to have mesomelic limb shortening with bilateral Madelung deformities, which was confirmed by measurements.
Homozygosity or compound heterozygosity for SHOX mutations leads to a more severe skeletal dysplasia--Langer mesomelic dysplasia.
Leri-Weill disease, which has been described as a dyschondrosteosis, is a rare syndrome causing mesomelic shortening of the limbs.
Leri-Weill disease is a rare inherited disorder characterized by deformity of the wrist, known as Madelung deformity, and mesomelic short stature.
SHOX mutations can lead to Langer mesomelic