The clinical features are low birth weight
dwarfism, short stature, triangular-shaped face (hatchet face), prominent
lips, prominent trapezia muscles, grooved anterior thorax, horizontal ribs,
winging of the scapulae, hypospadias, spina bifida occulta, and delayed
closure of the anterior fontanelle. Radiologically, the vertebral bodies are
tall, long bones appear slender, and there is evidence of delayed bone
maturation.