title: [Ventricular septal defect, pulmonary hypertension and 3C (cranio-cerebello-cardiac) syndrome: report of a case].
abstract: We report a case with the rare association of craniofacial anomalies, cerebellar vermis hypoplasia (Dandy-Walker variant) and congenital heart disease referred to as 3C (cranio-cerebello-cardiac) syndrome. A male infant was born at 40 weeks' gestation. The birth weight was 2,896 g. At birth he had macrocephaly, widely open metopic suture, ocular hypertelorism, cleft palate, apparently low-set ears, cerebellar vermis hypoplasia and ventricular septal defect (VSD) with pulmonary hypertension. Chromosomes were normal and we diagnosed 3C syndrome. At 8 months of age we performed a cardiac catheterization. The pulmonary artery pressure was 70/26 (48) mmHg and pulmonary vascular resistance (RpU) was 8.5 U/m2. But under the oxygenation RpU decreased to 1.5 U/m2. At 10 months of age we performed VSD patch closure. After operation his pulmonary artery pressure was 39/13 (25) mmHg under the oxygen therapy. He was on good course and discharged at 58 post operative day.
authors.affiliation: Department of Thoracic and Cardiovascular Surgery, Toyohashi Municipal Hospital, Toyohashi, Japan.
authors.forename: M
authors.initials: M
authors.lastname: Nakayama
authors.forename: M
authors.initials: M
authors.lastname: Kado
authors.forename: H
authors.initials: H
authors.lastname: Ishikawa
authors.forename: H
authors.initials: H
authors.lastname: Kondou
mesh_terms: D000015:Abnormalities, Multiple; D002531:Cerebellum / Q000002:abnormalities*; D019465:Craniofacial Abnormalities / Q000150:complications*; D006345:Heart Septal Defects, Ventricular / Q000150:complications*; D006801:Humans; D006976:Hypertension, Pulmonary / Q000150:complications*; D007223:Infant; D008297:Male; D013577:Syndrome