| Main clinical features
|
nonlethal dominant form, with shortened limbs and a long, narrow trunk in the newborn period that evolves into a severe, progressive kyphoscoliosis
distinctive facies with a prominent forehead and squared-off jaw, a high incidence of odontoid hypoplasia, cervical myelopathy, stenosis leading to significant neurologic sequelae
radiographic findings in metatropic dysplasia are characteristic and include wafer-like vertebral bodies in newborns, a halberd-shaped pelvis, irregular calcanei and tali, brachydactyly with delayed carpal ossification, and flared or “mushroomed” proximal and distal metaphyses of the femora leading to a “dumbbell-shaped bone |