Cardiofaciocutaneous syndrome with new ectodermal manifestations. Issue 6 (June 1992)

• Record Type: Journal Article
• Authors: Turnpenny, P D; Dean, J C; Auchterlonie, I A; Johnston, A W
• Is Part Of: Journal of medical genetics. Volume 29:Issue 6(1992)
• Page Start: 428
• Page End: 429
• Publication Date: 1992-06
• Subjects: Medical genetics -- Periodicals; 616.042
• DOI: 10.1136/jmg.29.6.428
• Languages: English
• ISSNs: 1468-6244

Abstract

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.