X-linked dominant chondrodysplasia punctata: a peroxisomal disorder?
X-linked dominant chondrodysplasia punctata is characterised by resolving irregular punctate calcifications of epiphyses, variable ichthyosis and atrophoderma, short stature, and cataracts. We report on a patient with this syndrome who had transiently abnormal peroxisomal function tests. We review the literature and propose that X-linked dominant chondrodysplasia punctata is a peroxisomal disorder and that its phenotype can be explained by X chromosome lyonisation and the relative proliferation of cells expressing the normal X allele.
Department of Clinical Genetics, Starship Children's Hospital, Auckland, New Zealand.
C J
CJ
Wilson
S
S
Aftimos
D002806:Chondrodysplasia Punctata / Q000235:genetics* / Q000378:metabolism; D005260:Female; D005799:Genes, Dominant; D008040:Genetic Linkage; D006801:Humans; D016114:Ichthyosis, X-Linked; D007231:Infant, Newborn; D017880:Limb Deformities, Congenital; D008830:Microbodies / Q000378:metabolism; D018901:Peroxisomal Disorders / Q000235:genetics* / Q000378:metabolism; D011114:Polynesia; D013577:Syndrome; D014960:X Chromosome