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Chondrodysplasia punctata: case report and review of audiological and ENT features
Published online by Cambridge University Press: 25 November 2005
Abstract
Chondrodysplasia punctata is a term referring to a clinically heterogeneous group of bone and cartilage dysplasias which cause characteristic epiphyseal stippling. The condition can involve the ear, nose and throat in diverse ways at many levels. We present a case of X-linked brachytelephalangic chondrodysplasia punctata, which illustrates the features of this condition particularly relevant to the audiological physician, otolaryngologist and neonatologist.
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- © 2005 JLO (1984) Limited
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