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Etiological study of omphalocele

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Summary

The epidemiological, teratological and genetic data on 134 index patients with omphalocele (79 isolated and 55 multiple ones) and on 134 matched controls born in Hungary 1970–1976 were studied from medical records and by retrospective interview. The stillbirth rate and infant mortality are significantly higher, and there is intrauterine weight retardation and more frequent preterm delivery. The distribution of maternal age-groups shows a ‘U-shaped’ trend in isolated omphalocele. Spontaneous abortions were significantly higher, particularly in previous pregnancies of mothers of index patients. A strikingly higher incidence of early and late toxaemia was found in the pregnancies of mothers of the isolated omphalocele group. Sib occurrence was not found in 161 brothers and sisters. Thus amniotic fluid AFP examination is not recommended in subsequent pregnancies. The occurrence of other congenital abnormalities corresponds to ‘random’ risk.

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References

  • Carey JC, Greenbaum B, Hall BD (1978) The OEIS complex (omphalocele, exstrophy, imperforate anus, spinal defects). Birth Defects 14 (6B):253–263

    CAS  PubMed  Google Scholar 

  • Colombani PM, Cunningham MD (1977) Perinatal aspects of omphalocele and gastroschisis. Am J Dis Child 131:1386–1388

    CAS  PubMed  Google Scholar 

  • Czeizel A (1979) Recurrence risk of omphalocele. Lancet 2:470

    Article  CAS  PubMed  Google Scholar 

  • Czeizel A (in press 1981) Schisis-association. Am J Med Genet

  • Czeizel A, Vitéz M (in press 1981) Birth prevalence of five congenital abnormalities of medium frequencies in Budapest. Acta Paediatr Acad Sci Hung

  • Greenwood RD, Rosenthal A, Nadas AS (1974) Cardiovascular malformations associated with omphalocele. J Pediatr 85:818–821

    Article  CAS  PubMed  Google Scholar 

  • Havalad S, Noblett H, Speidel BD (1979) Familial occurrence of omphalocele suggesting sex-linked inheritance. Arch Dis Child 54:142–151

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  • Jones KL, Smith DW, Hall BD, Hall JG, Ebbin AJ, Massoud H, Golbus MS (1974) A pattern of craniofacial and limb defects secondary to aberrant tissue bands. J Pediatr 84:90–95

    Article  CAS  PubMed  Google Scholar 

  • Kucera J, Goetz P (1971) Exomphalos in four consecutive pregnancies. Humangenetik 13:58–60

    Article  CAS  PubMed  Google Scholar 

  • McKeown T, MacMahon B, Record RG (1953) An investigation of 69 cases of exomphalos. Am J Hum Genet 5:168–173

    CAS  PubMed  Google Scholar 

  • Moore TC, Stokes GE (1953) Gastroschisis: Report of two cases treated by a modification of the gross operation for omphalocele. Surgery 33:112

    CAS  PubMed  Google Scholar 

  • Osuna A, Lindham S (1976) Four cases of omphalocele in two generations of the same family. Clin Genet 9:354–356

    Article  CAS  PubMed  Google Scholar 

  • Paucot H, Gellé P (1936) Hernie ombilicale embryonnaire recidivante chez trais foetus successifs. Bull Soc d'Obst et de Gynéc 25:296–297

    Google Scholar 

  • Peterson DS, Fisch L, Cass AS (1972) Twins with congenital deficiency of abdominal musculature. J Urol 107:670–672

    Google Scholar 

  • Rott HD, Truckenbordt H (1974) Familial occurrence of omphalocele. Humangenetik 24:259–260

    CAS  PubMed  Google Scholar 

  • Rothenberg RE, Barnett T (1957) Omphalocele in siblings. Report of two cases with surgical recovery. Arch Surg 75:131–134

    Article  CAS  Google Scholar 

  • Rott HD (1975) Zur Häutïgkeit und Atiologie der Omphalozolen. Z Kinderheilk 119:133–141

    Article  CAS  PubMed  Google Scholar 

  • Yuzpe AA, Johnson HD (1968) Omphalocele affecting both members of a twin pregnancy. Can Med Assoc J 99:374–376

    CAS  PubMed Central  PubMed  Google Scholar 

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Czeizel, A., Vitéz, M. Etiological study of omphalocele. Hum Genet 58, 390–395 (1981). https://doi.org/10.1007/BF00282821

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  • DOI: https://doi.org/10.1007/BF00282821

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