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Chondrodysplasia punctata: case report and review of audiological and ENT features

Published online by Cambridge University Press:  25 November 2005

L Murdin
Affiliation:
Department of Audiology, Great Ormond Street Hospital for Sick Children, London, UK
T Sirimanna
Affiliation:
Department of Audiology, Great Ormond Street Hospital for Sick Children, London, UK
B E Hartley
Affiliation:
Department of Otolaryngology, Great Ormond Street Hospital for Sick Children, London, UK
S E Holder
Affiliation:
North West Thames Regional Genetics Service, North West London Hospitals NHS Trust, Harrow, UK

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.

Type
Clinical Records
Copyright
© 2005 JLO (1984) Limited

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