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Further delineation of cardio-facio-cutaneous syndrome: clinical features of 38 individuals with proven mutations
  1. Christine M. Armour (carmour{at}
  1. Children's Hospital of Eastern Ontario, Canada
    1. Judith E. Allanson (allanson{at}
    1. Children's Hospital of Eastern Ontario, Canada


      Cardio-facio-cutaneous syndrome (CFC) is a multiple congenital anomaly/mental retardation syndrome named because of a characteristic facies, cardiac anomalies, and ectodermal abnormalites. While considerable literature describes the main features, few studies have documented the frequencies of less common features allowing a greater appreciation of the full phenotype. We have analyzed clinical data on 38 individuals with CFC and a confirmed mutation in one of the genes known to cause the condition. We provide data on well-established features, and those that are less often described. Polyhydramnios (77%) and prematurity (49%) were common perinatal issues. Seventy one percent of individuals had a cardiac anomaly, the most common being pulmonary valve stenosis (42%), hypertrophic cardiomyopathy (39%), and atrial septal defect (28%). Hair anomalies were also typical: 92 % had curly hair, 84 % sparse hair and 86 % absent or sparse eyebrows. The most frequent cutaneous features were keratosis pilaris (73%), hyperkeratosis (61%) and nevi (76%). Significant and long lived gastrointestinal dysmotility (71%), seizures (49%), optic nerve hypoplasia (30%) and renal anomalies, chiefly hydronephrosis (20%), were among the less well-known issues reported. This study reports a broad range of clinical issues in a large cohort of individuals with molecular confirmation of CFC.

      • BRAF
      • Cardio-facio-cutaneous syndrome
      • MEK1
      • MEK2
      • RasERK pathway

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