Albers-schonberg disease

General: Simple recessive inheritance, also dominant transm 353e46d ission; benign form is asymptomatic in about 50% of cases and known under the synonym Henck-Assmann syndrome; prognosis is poor for malignant form, with death usually in infancy.

Ocular: Oculomotor paralysis; cranial nerve VII palsy; optic atrophy; ptosis; exophthalmos; papilledema; nystagmus; anisocoria; congenital cataracts; hypertelorism; visual loss in infancy; nasolacrimal duct obstruction; keratoconus.

Clinical: Cartilage and bone thickening; multiple fractures; hyperchromic anemia; osteomyelitis; severe forms: jaundice, hepatosplenomegaly, skeleton sclerosis, lymphadenopathy, and hydrocephalus in infants; mild forms: nerve compression, fractures, and milder form of anemia; pancytopenia from marrow obliteration; low serum calcium; elevated phosphorus.

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