Literature DB >> 7687572

Cardio-facio-cutaneous (CFC) syndrome: neurological features in two children.

G Raymond1, L B Holmes.   

Abstract

Cardio-facio-cutaneous (CFC) syndrome consists of heart defects, a characteristic facial appearance, ectodermal abnormalities, growth retardation and developmental delay. The authors report two children with this condition, drawing particular attention to the neurological manifestations. The neurological features are neuro-opthalmological findings such as strabismus, ptosis and nystagmus, cortical atrophy, ventriculomegaly, mental retardation, seizures and hypotonia. These manifestations may allow differentiation of CFC from Noonan syndrome, which shares many of the physical features, but not these neurological features.

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Year:  1993        PMID: 7687572     DOI: 10.1111/j.1469-8749.1993.tb11718.x

Source DB:  PubMed          Journal:  Dev Med Child Neurol        ISSN: 0012-1622            Impact factor:   5.449


  3 in total

Review 1.  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

2.  Gastrointestinal and renal abnormalities in cardio-facio-cutaneous syndrome.

Authors:  Thomas E Herman; William H McAlister
Journal:  Pediatr Radiol       Date:  2004-10-15

3.  Epilepsy in a cohort of children with Noonan syndrome and related disorders.

Authors:  Chiara Davico; Rossella D'Alessandro; Marta Borgogno; Filippa Campagna; Francesca Torta; Federica Ricci; Federico Amianto; Roberta Vittorini; Diana Carli; Alessandro Mussa; Benedetto Vitiello; Giovanni Battista Ferrero
Journal:  Eur J Pediatr       Date:  2022-05-16       Impact factor: 3.860

  3 in total

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