Ain-Naz type of Rhizomelic dysplasia (RHZDAN), caused by mutations in the GNPNAT1gene, is characterized by severe short stature with marked rhizomelic shortening of the limbs, platyspondyly, and large hands and feet relative to height.
GNPNAT1GNPNAT1Ain-Naz type of Rhizomelic dysplasia (RHZDAN), caused by mutations in the GNPNAT1gene, is characterized by severe short stature with marked rhizomelic shortening of the limbs, platyspondyly, and large hands and feet relative to height.