title: The Gardner-Silengo-Wachtel or genito-palato-cardiac syndrome: male pseudohermaphroditism with micrognathia, cleft palate, and conotruncal cardiac defect.
abstract: We report on two sib fetuses with similar abnormalities detected prenatally by ultrasound. The first fetus had micrognathia, was without cleft palate, and had low-set ears, double outlet right ventricle with a ventricular septal defect, and 46,XY gonadal dysgenesis. The second sib fetus was born with cleft lip and palate, micrognathia, transposition of the great vessels, ventricular septal defect, a right-sided aorta arch, and bilateral cystic kidneys with hypospadias. We were able to identify 11 additional cases in the literature with similar findings. We think this set of defects is a recognizable syndrome that appears to be inherited either as an autosomal recessive or as an X-linked recessive and may overlap with the Smith-Lemli-Opitz syndrome.
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D002972:Cleft Palate / Q000235:genetics*; D012734:Disorders of Sex Development / Q000235:genetics*; D005260:Female; D005808:Genes, Recessive; D008040:Genetic Linkage; D006330:Heart Defects, Congenital / Q000235:genetics*; D006801:Humans; D008297:Male; D008844:Micrognathism / Q000235:genetics*; D011247:Pregnancy; D011296:Prenatal Diagnosis; D013577:Syndrome; D014960:X Chromosome