Cardio-facio-cutaneous (CFC) syndrome: neurological features in two children.
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.
Raymond
G
G
Harvard Medical School, Pediatrician, Embryology-Teratology Unit, Boston, MA.
Holmes
L B
LB
D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000503:physiopathology; D001921:Brain / Q000503:physiopathology; D001927:Brain Diseases / Q000150:complications / Q000175:diagnosis / Q000503:physiopathology; D002675:Child, Preschool; D002658:Developmental Disabilities / Q000209:etiology; D003937:Diagnosis, Differential; D005260:Female; D006130:Growth Disorders / Q000175:diagnosis; D006330:Heart Defects, Congenital / Q000175:diagnosis; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000175:diagnosis; D007806:Language Disorders / Q000209:etiology; D008297:Male; D009460:Neurologic Examination; D009634:Noonan Syndrome / Q000150:complications / Q000175:diagnosis / Q000503:physiopathology; D013064:Speech Disorders / Q000209:etiology; D009626:Terminology as Topic