Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome
Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome
Definition
A rare primary bone dysplasia disorder characterized by congenital hypotrichosis associated with rhizomelic short stature (more pronounced in upper limbs than lower limbs), limited hip abduction and mild genu varum. Flared and irregular metaphyses, delayed and irregular epiphiseal ossification and pear-shaped vertebral bodies are characteristic radiologic findings.