title: Chondrodysplasia punctata: a clinical diagnostic and radiological review.
abstract: Chondrodysplasia punctata (CDP) is associated with a number of disorders, including inborn errors of metabolism, involving peroxisomal and cholesterol pathways, embryopathy and chromosomal abnormalities. Several classification systems of the different types of CDP have been suggested earlier. More recently, the biochemical and molecular basis of a number of CDP syndromes has recently been elucidated and a new aetiological classification has emerged. Here we provide an updated version with an overview of the different types of CDP, a discussion of the aetiology and a description of the clinical and radiographic findings. An investigative guideline to help determine the exact diagnosis in new cases is also presented.
authors.affiliation: Department of Clinical Genetics, Guy's and St Thomas' Hospitals Foundation Trust, London, UK. Melita.Irving@gstt.nhs.uk
authors.forename: Melita D
authors.initials: MD
authors.lastname: Irving
authors.forename: Lyn S
authors.initials: LS
authors.lastname: Chitty
authors.forename: Sahar
authors.initials: S
authors.lastname: Mansour
authors.forename: Christine M
authors.initials: CM
authors.lastname: Hall
mesh_terms: D002784:Cholesterol / Q000378:metabolism; D018902:Chondrodysplasia Punctata, Rhizomelic / Q000175:diagnosis* / Q000000981:diagnostic imaging* / Q000209:etiology* / Q000378:metabolism; D003937:Diagnosis, Differential; D006801:Humans; D020675:Peroxisomes / Q000378:metabolism; D011859:Radiography
chemical_list: D002784:Cholesterol