Format

Send to

Choose Destination
Clin Dysmorphol. 2008 Oct;17(4):229-41. doi: 10.1097/MCD.0b013e3282fdcc70.

Chondrodysplasia punctata: a clinical diagnostic and radiological review.

Author information

1
Department of Clinical Genetics, Guy's and St Thomas' Hospitals Foundation Trust, London, UK. Melita.Irving@gstt.nhs.uk

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.

PMID:
18978650
DOI:
10.1097/MCD.0b013e3282fdcc70
[Indexed for MEDLINE]

Supplemental Content

Full text links

Icon for Wolters Kluwer
Loading ...
Support Center