Cardio-facio-cutaneous (CFC) syndrome a distinct entity? Report of three patients demonstrating the diagnostic difficulties in delineation of CFC syndrome

Dagmar Wieczorek; Frank Majewski; Gabriele Gillessen-Kaesbach

doi:10.1111/j.1399-0004.1997.tb02512.x

Cardio-facio-cutaneous (CFC) syndrome a distinct entity? Report of three patients demonstrating the diagnostic difficulties in delineation of CFC syndrome

Dagmar Wieczorek^*, Frank Majewski, Gabriele Gillessen-Kaesbach

^*Corresponding author for this work

Institute of Human Genetics

47 Citations (Scopus)

Abstract

We report on three patients with probable cardio-facio-cutaneous (CFC) syndrome. They present clinical findings of this condition such as: growth failure, heart defects, typical craniofacial appearance, ectodermal abnormalities, and developmental delay. We also give a detailed review of the previously published articles on CFC syndrome and discuss the differences between CFC, Noonan, and Costello syndromes. Other differential diagnoses are considered.

Original language	English
Journal	Clinical Genetics
Volume	52
Issue number	1
Pages (from-to)	37-46
Number of pages	10
ISSN	0009-9163
DOIs	https://doi.org/10.1111/j.1399-0004.1997.tb02512.x
Publication status	Published - 1997

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Research Area: Medical Genetics

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10.1111/j.1399-0004.1997.tb02512.x

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AB - We report on three patients with probable cardio-facio-cutaneous (CFC) syndrome. They present clinical findings of this condition such as: growth failure, heart defects, typical craniofacial appearance, ectodermal abnormalities, and developmental delay. We also give a detailed review of the previously published articles on CFC syndrome and discuss the differences between CFC, Noonan, and Costello syndromes. Other differential diagnoses are considered.

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Cardio-facio-cutaneous (CFC) syndrome a distinct entity? Report of three patients demonstrating the diagnostic difficulties in delineation of CFC syndrome

Abstract

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