RESUMO
Waardenburg-Klein syndrome is an "Oculo-dermato-auditif" dysplasia described in 1947 by Waardenburg and by Klein in 1950. Canthus dystopia and congenital deafness are the main symptoms. Three clinical types have been reported: type I: presents the full symptomatology; type II: without canthus dystopia; type III: presents not only the complete syndrome but also an orthro-osteomyodysplasia of the upper limbs. This clinical case in a small 3.5-year-old boy with congenital deafness, bilateral iris hypochromia and retina albinism without canthus dystopia was classed as type II Waardenburg-Klein syndrome. The patient had a second apparently fortuitous hereditary affection: hemoglobinopathy (Hb AS). But this seems to be fortuitous.
Assuntos
Síndrome de Waardenburg/diagnóstico , Benin , Pré-Escolar , Surdez/etiologia , Humanos , Iris/anormalidades , Masculino , Síndrome de Waardenburg/classificação , Síndrome de Waardenburg/genéticaRESUMO
The relapsing polychondritis is a rare autoimmune disease. The pathologist finds a fibrous degeneration of the cartilage of the body. A case relapsing polychondritis is presented and the disorders of the disease are reviewed. The larynx and trachea location is a fact of a poor prognosis.