Albers-Schonberg Disease
Albers-Schonberg Disease (Marble Bone Disease; Osteosclerosis Fragilis
Generalisata; Osteopetrosis; Osteopoikilosis; Osteosclerosis Congenita
Diffusa) 36
General: Simple recessive inheritance, also dominant transmission; 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.
Aasved H. Osteopetrosis from the ophthalmological point of view. A report of two cases. Acta Ophthalmol 1970; 48: 771-778.
Ainsworth JR, et al. Visual loss in infantile osteopetrosis. J Pediatr Ophthalmol Strabismus 1993; 30:201-203.
Albers-Schonberg H. Rontgenbilder einer Seltenen Knochenerkrankung. Munch Med Wochenschr 1904; 51:365.
Ellis PP, Jackson WE. Osteopetrosis: a clinical study of optic nerve involvement. Am J Ophthalmol 1962; 53: 943-953.
Fraunfelder FT, Roy FH. Current ocular therapy, 5th ed. Philadelphia: WB Saunders, 2000.
Magalini SI, Scrascia E. Dictionary of medical syndromes, 2nd ed. Philadelphia: JB Lippincott, 1981.
Orengo SD, Patrinely JR. Dacryocystorhinostomy in osteopetrosis. Ophthalmic Surg 1991; 22:396-398.
Generalisata; Osteopetrosis; Osteopoikilosis; Osteosclerosis Congenita
Diffusa) 36
General: Simple recessive inheritance, also dominant transmission; 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.
Aasved H. Osteopetrosis from the ophthalmological point of view. A report of two cases. Acta Ophthalmol 1970; 48: 771-778.
Ainsworth JR, et al. Visual loss in infantile osteopetrosis. J Pediatr Ophthalmol Strabismus 1993; 30:201-203.
Albers-Schonberg H. Rontgenbilder einer Seltenen Knochenerkrankung. Munch Med Wochenschr 1904; 51:365.
Ellis PP, Jackson WE. Osteopetrosis: a clinical study of optic nerve involvement. Am J Ophthalmol 1962; 53: 943-953.
Fraunfelder FT, Roy FH. Current ocular therapy, 5th ed. Philadelphia: WB Saunders, 2000.
Magalini SI, Scrascia E. Dictionary of medical syndromes, 2nd ed. Philadelphia: JB Lippincott, 1981.
Orengo SD, Patrinely JR. Dacryocystorhinostomy in osteopetrosis. Ophthalmic Surg 1991; 22:396-398.
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