This condition is evident at birth and may be diagnosed antenatally with ultrasound or magnetic resonance imaging. The infants may be still born. Those that are live born do not survive long. Radiological findings include * Severe platyspondyly * Distally tapered, shortened, incomplete or absent humeri and femurs * Shortened or bowed radii, ulnas and tibias * Hypoplastic pelvis and fibulas * Deficient ossification of the metacarpals, middle and proximal phalanges Differential diagnosis This includes * Achondroplasia * Achondrogenesis * Atelosteogenesis III * Boomerang dysplasia * Campomelic dysplasia * Ellis-van Creveld syndrome * Hypophosphatasia * Melnick Needles syndrome * Metatropic dysplasia * Osteogenesis imperfecta * Roberts syndrome * Short rib polydactyly syndrome * Thanatophoric dysplasia
Atelosteogenesis type I
Atelosteogenesis, type II
Chondrodysplasia, Grebe type
Juvenile active ossifying fibroma
Myxoid cyst
Enchondroma
Ameloblastic fibro-odontoma
Peripheral ossifying fibroma