The cardio-facio-cutaneous syndrome: a manifestation of the Noonan syndrome?
case_report · Level V
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- Record sourced from PubMed, PMID 7917994.
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Abstract
The cardio-facio-cutaneous (CFC) syndrome has several features in common with the Noonan syndrome, but is distinguished by the presence of hyperkeratotic skin lesions, abnormal hair, and a lack of familial cases. We describe a family who clearly satisfy the criteria for the CFC syndrome, and show other features which have been reported in the Noonan syndrome but not in the CFC syndrome, namely a haemorrhagic diathesis and ocular abnormalities. This supports the concept that the CFC syndrome is a manifestation of the Noonan syndrome.
Medical subject headings
- Face
- Nails, Malformed
- Noonan Syndrome
- Skin