[Keratoconus in Albers-Schönberg disease]. 1994

O Filip, and T Golu, and I Filip, and N Scaueru, and V Ciuchi
Secţia de Oftalmologie Tg.-Jiu.

A 34-year-old patient presents bilateral keratoconus with osteo-condensing and osteolysis at the level of long bones, oligophrenia, perception deafness, muscular atrophy, anemia, arterial hypertension--typical manifestation of Albers-Schönberg malady. Osteopetrosis is manifested through an important condensing of the cortical and of bones' spongeous traveas, with medullary channel disappearance and particular bone fragility, which made the affection to be named as "marble bones' illness". The affection is caused by a congenital alteration of the mesenchyma, with excessive deposit of calcium at the level of bones, cartilages, tendons, viscera and vessels. The presence of keratoconus in Albers-Schönberg malady hasn't been mentioned in the medical literature.

UI MeSH Term Description Entries
D007640 Keratoconus A noninflammatory, usually bilateral protrusion and thinning of the CORNEA, the apex being displaced downward and nasally. It occurs most commonly in females at about puberty. Two closely related noninflammatory corneal ectasias are pellucid marginal degeneration and keratoglobus. Keratoglobus,Pellucid Marginal Corneal Degeneration,Pellucid Marginal Degeneration,Degeneration, Pellucid Marginal,Marginal Degeneration, Pellucid,Pellucid Marginal Degenerations
D010022 Osteopetrosis Excessive formation of dense trabecular bone leading to pathological fractures; OSTEITIS; SPLENOMEGALY with infarct; ANEMIA; and extramedullary hemopoiesis (HEMATOPOIESIS, EXTRAMEDULLARY). Albers-Schoenberg Disease,Marble Bone Disease,Osteosclerosis Fragilis,Albers-Schonberg Disease,Albers-Schonberg Disease, Autosomal Dominant,Albers-Schönberg Disease,Autosomal Dominant Osteopetrosis Type 2,Congenital Osteopetrosis,Marble Bones, Autosomal Dominant,Osteopetrosis Autosomal Dominant Type 2,Osteopetrosis, Autosomal Dominant 2,Osteopetrosis, Autosomal Dominant, Type II,Osteosclerosis Fragilis Generalisata,Albers Schoenberg Disease,Albers Schonberg Disease,Albers Schonberg Disease, Autosomal Dominant,Albers Schönberg Disease,Disease, Albers-Schoenberg,Disease, Albers-Schonberg,Disease, Albers-Schönberg,Disease, Marble Bone,Osteopetroses,Osteosclerosis Fragilis Generalisatas
D005260 Female Females
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000328 Adult A person having attained full growth or maturity. Adults are of 19 through 44 years of age. For a person between 19 and 24 years of age, YOUNG ADULT is available. Adults

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