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Dev Med Child Neurol. 1993 Aug;35(8):727-32.

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

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  • 1Harvard Medical School, Pediatrician, Embryology-Teratology Unit, Boston, MA.


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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