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Article

Café au lait macules and cerebro-oculo-facio-skeletal syndrome: a novel association.

Pediatric dermatology - 1 Jan 2000

Twede James Vernal, Difazio Mark

Abstract excerpt

Cerebro-oculo-facio-skeletal (COFS) syndrome is an autosomal recessive disorder characterized by a wide range of dysmorphic features, including profound microcephaly, mental retardation, hyperkinesis, failure to thrive, and orthopedic abnormalities (1). It is a heterogeneous syndrome, and a number of variant cases have been reported. We report a patient with the features of COFS, with associated widespread...

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Identifiers

PMID: 19250421
DOI: 10.1111/j.1525-1470.2008.00833.x

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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