Report of a patient with camptodactyly, arthropathy, and epiphyseal dysplasia.
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Biomedical subjects
Publications and source records attributed to A Ferchiou.
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The authors describe a tunisian family including ten patients with neurofibromatosis. Four case reports present dental anomalies (amelogenesis imperfecta) and three have myopia. The authors believe there is no clinical or genetical relation between neurofibromatosis and this dental dystrophia; but myopia may be a clinical expression of Recklinghausen disease.
Spondylo-epiphyseal dysplasia tarda is an hereditary disease of bone first described by Maroteaux in 1957. The disease affects only boys, then is transmitted on X-linked recessive pattern. The authors describe two tunisians families with 8 patients presenting clinical and radiologic symptoms resembling spondylo-epiphyseal dysplasia tarda but affecting both sexes. Autosomal recessive inheritance is probable in these families. Conclusion is that genetic heterogeneity of the disease must be precise.
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Blindness is a rare complication of acute glomerulonephritis. During three years (1980-82) 32 cases of acute glomerulonephritis are admitted in a Pediatric Department. Five children had neurologic complications among whom three developed complete, bilateral and transient blindness. In all cases blindness is associated with hypertension and intracranial pressure. The mechanism suggested in this kind of amaurosis is cerebral oedema, and the adequate treatment of this oedema permit a complete recovery of the vision.
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