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X-linked dominant chondrodysplasia punctata: A peroxisomal disorder?

✍ Scribed by Wilson, Callum J.; Aftimos, Salim

Publisher: John Wiley and Sons
Year: 1998
Tongue: English
Weight: 5 KB
Volume: 78
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19980707)78:3<300::aid-ajmg19>3.0.co;2-j

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✦ Synopsis

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. Am.

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