title: Chondrodysplasia punctata: case report and review of audiological and ENT features.
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.
authors.affiliation: Department of Audiology, Great Ormond Street Hospital for Sick Children, London, UK. louisa@murdin.com
authors.forename: L
authors.initials: L
authors.lastname: Murdin
authors.forename: T
authors.initials: T
authors.lastname: Sirimanna
authors.forename: B E
authors.initials: BE
authors.lastname: Hartley
authors.forename: S E
authors.initials: SE
authors.lastname: Holder
mesh_terms: D001999:Bronchoscopy; D002806:Chondrodysplasia Punctata / Q000235:genetics / Q000473:pathology* / Q000503:physiopathology; D050172:Genes, X-Linked / Q000235:genetics; D006801:Humans; D007223:Infant; D007828:Laryngoscopy; D007830:Larynx / Q000473:pathology; D008297:Male; D010641:Phenotype