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J Med Genet. 1979 April; 16(2): 157–159.
PMCID: PMC1012744

Anencephaly with diaphragmatic hernia in sibs.


Two sibs who both had anencephaly and diaphragmatic hernia are reported. The type of diaphragmatic defect seen in anencephaly may differ from the defect seen in other babies. It is important to perform a necropsy in anencephaly.

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Selected References

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  • David TJ, Illingworth CA. Diaphragmatic hernia in the south-west of England. J Med Genet. 1976 Aug;13(4):253–262. [PMC free article] [PubMed]
  • David TJ, Nixon A. Congenital malformations associated with anencephaly and iniencephaly. J Med Genet. 1976 Aug;13(4):263–265. [PMC free article] [PubMed]
  • Holmes LB, Driscoll SG, Atkins L. Etiologic heterogeneity of neural-tube defects. N Engl J Med. 1976 Feb 12;294(7):365–369. [PubMed]
  • Scott JM, Paterson L. Monozygous anencephalic triplets--a case report. J Obstet Gynaecol Br Commonw. 1966 Feb;73(1):147–151. [PubMed]
  • Thomas MP, Stern LM, Morris LL. Bilateral congenital diaphragmatic defects in two siblings. J Pediatr Surg. 1976 Jun;11(3):465–467. [PubMed]

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