Literature DB >> 9272711

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

D Wieczorek1, F Majewski, G Gillessen-Kaesbach.   

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.

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Year:  1997        PMID: 9272711     DOI: 10.1111/j.1399-0004.1997.tb02512.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN: 0009-9163            Impact factor:   4.438


  11 in total

1.  Noonan syndrome: clinical aspects and molecular pathogenesis.

Authors:  M Tartaglia; G Zampino; B D Gelb
Journal:  Mol Syndromol       Date:  2010-01-15

2.  Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations.

Authors:  Martin Zenker; Katarina Lehmann; Anna Leana Schulz; Helmut Barth; Dagmar Hansmann; Rainer Koenig; Rudolf Korinthenberg; Martina Kreiss-Nachtsheim; Peter Meinecke; Susanne Morlot; Stefan Mundlos; Anne S Quante; Salmo Raskin; Dirk Schnabel; Lars-Erik Wehner; Christian P Kratz; Denise Horn; Kerstin Kutsche
Journal:  J Med Genet       Date:  2006-10-20       Impact factor: 6.318

Review 3.  The cardiofaciocutaneous syndrome.

Authors:  A Roberts; J Allanson; S K Jadico; M I Kavamura; J Noonan; J M Opitz; T Young; G Neri
Journal:  J Med Genet       Date:  2006-07-06       Impact factor: 6.318

4.  Effects of germline mutations in the Ras/MAPK signaling pathway on adaptive behavior: cardiofaciocutaneous syndrome and Noonan syndrome.

Authors:  Elizabeth I Pierpont; Mary Ella Pierpont; Nancy J Mendelsohn; Amy E Roberts; Erica Tworog-Dube; Katherine A Rauen; Mark S Seidenberg
Journal:  Am J Med Genet A       Date:  2010-03       Impact factor: 2.802

5.  Decreased elastin deposition and high proliferation of fibroblasts from Costello syndrome are related to functional deficiency in the 67-kD elastin-binding protein.

Authors:  A Hinek; A C Smith; E M Cutiongco; J W Callahan; K W Gripp; R Weksberg
Journal:  Am J Hum Genet       Date:  2000-03       Impact factor: 11.025

Review 6.  Disorders of dysregulated signal traffic through the RAS-MAPK pathway: phenotypic spectrum and molecular mechanisms.

Authors:  Marco Tartaglia; Bruce D Gelb
Journal:  Ann N Y Acad Sci       Date:  2010-10-19       Impact factor: 5.691

7.  Costello syndrome: clinical diagnosis in the first year of life.

Authors:  M Cristina Digilio; Anna Sarkozy; Rossella Capolino; M Beatrice Chiarini Testa; Giorgia Esposito; Andrea de Zorzi; Renato Cutrera; Bruno Marino; Bruno Dallapiccola
Journal:  Eur J Pediatr       Date:  2007-08-29       Impact factor: 3.183

8.  Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype-phenotype relationships and overlap with Costello syndrome.

Authors:  Caroline Nava; Nadine Hanna; Caroline Michot; Sabrina Pereira; Nathalie Pouvreau; Tetsuya Niihori; Yoko Aoki; Yoichi Matsubara; Benoit Arveiler; Didier Lacombe; Eric Pasmant; Béatrice Parfait; Clarisse Baumann; Delphine Héron; Sabine Sigaudy; Annick Toutain; Marlène Rio; Alice Goldenberg; Bruno Leheup; Alain Verloes; Hélène Cavé
Journal:  J Med Genet       Date:  2007-08-17       Impact factor: 6.318

9.  Clinical manifestations in patients with SOS1 mutations range from Noonan syndrome to CFC syndrome.

Authors:  Yoko Narumi; Yoko Aoki; Tetsuya Niihori; Masahiro Sakurai; Hélène Cavé; Alain Verloes; Kimio Nishio; Hirofumi Ohashi; Kenji Kurosawa; Nobuhiko Okamoto; Hiroshi Kawame; Seiji Mizuno; Tatsuro Kondoh; Marie-Claude Addor; Anne Coeslier-Dieux; Catherine Vincent-Delorme; Koichi Tabayashi; Masashi Aoki; Tomoko Kobayashi; Afag Guliyeva; Shigeo Kure; Yoichi Matsubara
Journal:  J Hum Genet       Date:  2008-07-24       Impact factor: 3.172

10.  Cardiofaciocutaneous syndrome: a rare entity.

Authors:  S Pavithra; H Mallya; G S Pai
Journal:  Indian J Dermatol       Date:  2012-07       Impact factor: 1.494

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