Hirschsprung's disease associated withcongenital heart malformation, broad bigtoes, andulnar polydactyly insibs: a caseforfetoscopy

C.RICHARDSt Summary.Successful fetoscopy using a9mm laparoscope wascarried outon an 18-week pregnancyofahealthy woman whohadhadtwoprevious maleinfants withbilateral double bigtoes,bilateral ulnar supernumerarydigits associated with short segmentHirschsprung's disease, andventricular septal defect oftheheart, a syndrome apparently notpreviously described. Thefetus wasfound tobenormal, butanamniotic membrane defect wasdetected, whichaccounted foramniotic fluid leakage from24weeks up todelivery by caesareansection ofanormal maleinfant at35weeks. Thepossible genetic basis andrecurrencerisk, putatprobably one infourfor this syndrome, isdiscussed. Theindications forfetoscopy aresetoutandafundal approach atlaparotomy after placental localization isrecommended fortheprocedure. Hirschsprung's disease isgenerally regarded tobe oneoftheconditions wheregenetic factors, probablypolygenic innature, areimportant inthe aetiology (Bodian and Carter, 1963). Various associated malformations havebeenrecorded in about10%ofcases.OnlyDown'ssyndrome and possibly pyloric stenosis seemstooccurrather more frequently thanmightbe expected by chance (Passarge, 1967). A hitherto undescribed association withalmostidentical cardiac andskeletal abnormalities intwomalesibs (Laurence etal, 1974), whichledtothesuccessful useoffetoscopy inasubsequent pregnancy, isthesubject ofthis report.