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J Med Genet. 1997 July; 34(7): 601–603.
PMCID: PMC1051006

Congenital diaphragmatic hernia with probable autosomal recessive inheritance in an extended consanguineous Pakistani pedigree.


We report four cases of congenital diaphragmatic hernia occurring in two generations of a consanguineous Pakistani family. The affected subjects resembled no recognised genetic syndrome. This family provides further evidence for possible autosomal recessive inheritance of congenital diaphragmatic hernia in some cases.

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Selected References

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  • Hirata GI, Medearis AL, Platt LD. Fetal abdominal abnormalities associated with genetic syndromes. Clin Perinatol. 1990 Sep;17(3):675–702. [PubMed]
  • Hitch DC, Carson JA, Smith EI, Sarale DC, Rennert OM. Familial congenital diaphragmatic hernia is an autosomal recessive variant. J Pediatr Surg. 1989 Sep;24(9):860–864. [PubMed]
  • Hubert B, Toyama WM. Familial right thoracic stomach. Pediatrics. 1987 Mar;79(3):430–431. [PubMed]
  • Passarge E, Halsey H, German J. Unilateral agenesis of the diaphragm. Humangenetik. 1968;5(3):226–230. [PubMed]
  • Norio R, Käriäinen H, Rapola J, Herva R, Kekomäki M. Familial congenital diaphragmatic defects: aspects of etiology, prenatal diagnosis, and treatment. Am J Med Genet. 1984 Feb;17(2):471–483. [PubMed]
  • Farag TI, Issa MA, Mahfouz ES. Discordant, non-syndromic, congenital diaphragmatic defects in sibs. J Med Genet. 1989 Dec;26(12):781–782. [PMC free article] [PubMed]
  • Arad I, Lijovetzky GC, Starinsky R, Laufer N, Cohen T. Diaphragmatic defects in children of consanguineous parents. Hum Genet. 1980;55(2):275–277. [PubMed]
  • Farag TI, Bastaki L, Marafie M, al-Awadi SA, Krsz J. Autosomal recessive congenital diaphragmatic defects in the Arabs. Am J Med Genet. 1994 Apr 15;50(3):300–301. [PubMed]
  • Fryns JP. Fryns syndrome: a variable MCA syndrome with diaphragmatic defects, coarse face, and distal limb hypoplasia. J Med Genet. 1987 May;24(5):271–274. [PMC free article] [PubMed]
  • Czeizel A, Kovács M. A family study of congenital diaphragmatic defects. Am J Med Genet. 1985 May;21(1):105–117. [PubMed]
  • Crane JP. Familial congenital diaphragmatic hernia: prenatal diagnostic approach and analysis of twelve families. Clin Genet. 1979 Oct;16(4):244–252. [PubMed]

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