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. 1992 Jun;29(6):428–429. doi: 10.1136/jmg.29.6.428

Cardiofaciocutaneous syndrome with new ectodermal manifestations.

P D Turnpenny 1, J C Dean 1, I A Auchterlonie 1, A W Johnston 1
PMCID: PMC1015998  PMID: 1619641

Abstract

We describe a 7 year old girl whose features satisfy the diagnosis of cardiofaciocutaneous syndrome. Her ectodermal features consist of fine, sparse hair, thin, opalescent nails, finger tip pads, generalised pigmentation of the skin, but no hyperkeratosis. Skin pigmentation and finger tip pads have not been previously reported in this syndrome. Twenty-two cases of CFC have been described but there is debate as to whether it is distinct from Noonan syndrome.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

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