Proportionate growth retardation (prenatal and
postnatal) associated with delayed bone age is the most common feature.
Medullary stenosis of the long bones is common, and delayed closure of the
anterior fontanelle occurs in 90% (fontanelle may remain open into
teenage years). Sixty percent of patients have convulsions and tetany.
Fatal outcome of these convulsions has been reported. Ophthalmic abnormalities are common: most frequently microphthalmia and
hyperopia, as well as strabismus, congenital glaucoma, and pseudopapilledema.
Intelligence usually is normal, but psychomotor delay may be present.