Genitopalatocardiac Syndrome

Clinical Features

Greenberg et al. (1987) reported the cases of 2 sib fetuses with similar abnormalities detected prenatally by ultrasound. The first fetus had micrognathia, low-set ears, double outlet right ventricle with a ventricular septal defect and 46,XY gonadal dysgenesis. The second fetus was born with cleft lip and palate, micrognathia, transposition of the great vessels, ventricular septal defect, right-sided aortic arch, and bilateral cystic kidneys with hypospadias. Greenberg et al. (1987) identified 11 similar cases in the literature, including those of Gardner et al. (1970), Silengo et al. (1974), and Wachtel (1983). These cases were very similar to those of Curry et al. (1987), who referred to the condition as type II Smith-Lemli-Opitz syndrome (see 270400); the main difference was the lack of polydactyly in the patients reported by Greenberg et al. (1987).

Golabi et al. (2009) described a male infant born with multiple congenital anomalies including micrognathia, cleft palate, congenital heart defects with D-transposition, double-outlet right ventricle, patent foramen ovale, ventricular septal defect, patent ductus arteriosus, and pulmonary valve stenosis, and gonadal dysgenesis. The infant died on day 3 of life from cardiopulmonary failure. Chromosome analysis showed that he had a small chromosome 10q26-qter monosomy and a larger chromosome 3q31-qter trisomy. Noting the phenotypic similarity between genitopalatocardiac syndrome and the chromosome 10q26 deletion syndrome (609625), Golabi et al. (2009) suggested that the former might represent a phenocopy of the latter, or that a candidate region for genitopalatocardiac syndrome might reside on distal chromosome 10q.