Rhizomelic dwarf

Exaggerated lumbar lordosis, posterior vertebral scalloping, narrow foramen magnum, congenital spinal stenosis, decreased interpediculate distance

Squared iliac wings, narrow sciatic notch, horizontal acetabular roof

Trident hand, flared anterior ribs

Congenital heart disease, GI abnormalities

Brachycephaly, abnormal facies

Short stature, atlantoaxial instability, developmental hip dysplasia

Regional osteoporosis ± scoliosis

Mental retardation, delayed growth, short stature, stippled epiphyses

Abnormal skull and face with thick protruding tongue, delayed dentition

Rhizomelic dwarf

C1-2 subluxation, accentuated lumbar lordosis, early osteoarthritis

Short thick tubular bones especially in hands and feet, metaphyseal excrescences

Short stature, macrocephaly, coarse facial features, widely spaced teeth

Odontoid hypoplasia, increased lumbar lordosis, bell chest, & paddle-shaped ribs

Flared iliac wings, inferior tapering iliac bones, steep acetabuli, coxa valga

Mental retardation, short stature

Coarse facial features, macrocephaly, and other craniovertebral anomalies including J-shaped sella

Small iliac bones with inferior tapering, steep acetabuli, abnormal femoral heads

Thickened tubular bones, contractures