Common features are short-limb dwarfism, minor
craniofacial anomalies, and normal intelligence. Growth: progressive growth
failure, lower limbs more involved than upper limbs. Craniofacial: large head, frontal
bossing, epicanthal folds, midface hypoplasia, broad and anteverted
“saddle” nose is characteristic, mild prognathism. Other occasional
reported features include subglottic stenosis, bronchomalacia, avascular
necrosis of hip, increased lordosis, scoliosis, progressive infantile coxa
vara, and joint deformities.