Literature DB >> 3425595

The CFC syndrome--report of the first two cases outside the United States.

G Neri1, G Sabatino, E Bertini, M Genuardi.   

Abstract

We report on two additional patients with the cardiofaciocutaneous (CFC) syndrome, the first to be reported outside the United States. They have several of the characteristic manifestations of this new multiple congenital anomalies/mental retardation syndrome, namely, mental retardation, growth retardation, relative macrocephaly, unusual face, abnormal hair, skin involvement, heart defect, hernias, and splenomegaly. Similar to all previously reported cases, these also were sporadic and had normal chromosomes.

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Year:  1987        PMID: 3425595     DOI: 10.1002/ajmg.1320270404

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN: 0148-7299


  5 in total

Review 1.  Cardio-facio-cutaneous syndrome: clinical features, diagnosis, and management guidelines.

Authors:  Mary Ella M Pierpont; Pilar L Magoulas; Saleh Adi; Maria Ines Kavamura; Giovanni Neri; Jacqueline Noonan; Elizabeth I Pierpont; Kent Reinker; Amy E Roberts; Suma Shankar; Joseph Sullivan; Melinda Wolford; Brenda Conger; Molly Santa Cruz; Katherine A Rauen
Journal:  Pediatrics       Date:  2014-09-01       Impact factor: 7.124

Review 2.  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

3.  Cardiofaciocutaneous syndrome with new ectodermal manifestations.

Authors:  P D Turnpenny; J C Dean; I A Auchterlonie; A W Johnston
Journal:  J Med Genet       Date:  1992-06       Impact factor: 6.318

Review 4.  The cardio-facio-cutaneous syndrome: report of a patient and review of the literature.

Authors:  A Bottani; I Hammerer; A Schinzel
Journal:  Eur J Pediatr       Date:  1991-05       Impact factor: 3.183

Review 5.  The impact of RASopathy-associated mutations on CNS development in mice and humans.

Authors:  Minkyung Kang; Yong-Seok Lee
Journal:  Mol Brain       Date:  2019-11-21       Impact factor: 4.041

  5 in total

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