Cardio-facio-cutaneous (CFC) syndrome: report of a new patient.
We describe a girl with the cardio-facio-cutaneous (CFC) syndrome. She presented most of the characteristics of the new multiple congenital anomalies/mental retardation (MCA/MR) syndrome: unusual facial appearance and ectodermal symptoms, that is, abnormal hair and skin, ventricular septum defect, relative macrocephaly with large ventricles and cortical "atrophy," submucous cleft palate, and umbilical hernia. Her twin brother died shortly after birth and may have had the same malformation syndrome.
Chrzanowska
K
K
Department of Human Genetics, Memorial Hospital-Child Health Centre, Warsaw, Poland.
Fryns
J P
JP
Van den Berghe
H
H
D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics; D002675:Child, Preschool; D004200:Diseases in Twins / Q000175:diagnosis; D004476:Ectodermal Dysplasia / Q000175:diagnosis* / Q000235:genetics; D005149:Facial Expression; D005183:Failure to Thrive / Q000235:genetics; D005260:Female; D006330:Heart Defects, Congenital / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D013577:Syndrome