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Chondrodysplasia punctata: case report and review of audiological and ENT features (2005)

Murdin,
L.,
Sirimanna,
T.,
Hartley,
B.E.,
Holder,
S.E.

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

Publication details

Download	http://www.ucl.ac.uk/research/publications/?action=search&pubid=107243
Repository	UCL Research Publications Index (MyOPIA) (United Kingdom)
Keywords	A, AND, ARTICLE, BONE, Cartilage, Case Report, CHILDREN, Chondrodysplasia Punctata, Condition, Dysplasia, ear, FEATURES, FOR, IS, JOURNAL, LA, LEVEL, LONDON, Nose, OF, report, REVIEW, TERM, THE, X-linked
Type	JOUR
Relation	1-4