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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 ,
T Sirimanna ,
B E Hartley  and
S E Holder
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
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Abstract

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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.

Keywords

Chondrodysplasia PunctataHearing LossAirway ObstructionGenetic Diseases
Type
Clinical Records
Information
The Journal of Laryngology & Otology , Volume 120 , Issue 3 , March 2006 , pp. 233 - 236
Copyright
© 2005 JLO (1984) Limited