Further delineation of the Opitz G/BBB syndrome: report of an infant with complex congenital heart disease and bladder exstrophy, and review of the literature

Am J Med Genet. 1998 Jul 7;78(3):294-9. doi: 10.1002/(sici)1096-8628(19980707)78:3<294::aid-ajmg18>3.0.co;2-a.


The combination of complex congenital heart disease (double outlet right ventricle with pulmonary atresia, malalignment ventriculoseptal defect, right-sided aortic arch with left ductus arteriosus) and bladder exstrophy occurred in an infant with Opitz syndrome. Neither of these defects has previously been reported in association with Opitz syndrome. These malformations, which are midline defects, further characterize this syndrome as an impairment in midline development. The spectrum of congenital heart disease and genitourinary anomalies seen in Opitz syndrome is reviewed.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Abnormalities, Multiple*
  • Bladder Exstrophy*
  • Ear / abnormalities
  • Echocardiography
  • Heart Defects, Congenital*
  • Humans
  • Hypertelorism
  • Hypospadias
  • Infant, Newborn
  • Male
  • Nose / abnormalities
  • Pulmonary Atresia
  • Syndrome
  • Testis / abnormalities