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Case Reports
. 1994 Aug;131(2):270-4.
doi: 10.1111/j.1365-2133.1994.tb08504.x.

The cardio-facio-cutaneous syndrome: a manifestation of the Noonan syndrome?

K A Ward  1 , C Moss, C McKeown
Affiliations
Case Reports

The cardio-facio-cutaneous syndrome: a manifestation of the Noonan syndrome?

K A Ward et al. Br J Dermatol. 1994 Aug.

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.

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