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Unilateral agenesis of the diaphragm


A brother and sister with congenital agenesis of the diaphragm are described and the literature reviewed with respect to the familial incidence of congenital diaphragmatic lesions. Although unilateral agenesis of the diaphragm is infrequent, four comparable reports of familial occurrence were found.

Based on anatomic and genetic considerations, the hypothesis is advanced that agenesis of the diaphragm may be etiologically different from other lesions of the diaphragm. The possibility exists that a rare recessive gene in some cases might cause this developmental failure of the diaphragm anlage.

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  1. Andersen, D. H.: Effect of diet during pregnancy upon the incidence of congenital hereditary diaphragmatic hernia in the rat. Amer. J. Path. 25, 163–184 (1949).

  2. Bingham, J. A. W.: Herniation through congenital diaphragmatic defects. Brit. J. Surg. 47, 1–22 (1959).

  3. Butler, N., and A. E. Claireaux: Congenital diaphragmatic hernia as a cause of perinatal mortality. Lancet 1962 I, 659–663.

  4. Cantaboni, A., F. Rilke, G. Okely, and C. Giardini: Considerazioni critiche sula genesi formale della ernie diaframmatiche embrionali (studio anatomo-patologico di 21 casi). Folia hered. path. (Milano) 13, 1–18 (1963).

  5. Carter, R. E. B., D. J. Waterston and E. Aberdeen: Hernia and eventration of diaphragm in childhood. Lancet 1962 I, 656–659.

  6. Delattre, A., A. Buisine, and P. Delegrange: Hernie diaphragmatique congénitale de l'estomac chez deux soeurs. Role probable de l'hérédité. J. Sci. méd. Lille 69, 165–169 (1951).

  7. Erway, L., L. S. Hurley, and A. Fraser: Neurological defect: Manganese in phenocopy and prevention of a genetic abnormality of inner ear. Science 152, 1766–1768 (1966).

  8. Harrington, S. W.: Various types of diaphragmatic hernia treated surgically. Report of 430 cases. Surg. Gynec. Obstet. 86, 735–755 (1948).

  9. Heron, I. C.: Familial diaphragmatic hernia. Calif. Med. 73, 497–499 (1950).

  10. Hobolth, N.: Drugs and foetal abnormalities. Lancet 1962 II, 1333–1334.

  11. Jackson, T. M.: Congenital diaphragmatic hernia. Arch. Surg. 95, 102–110 (1967).

  12. Kup, J.: Zwerchfelldefekt nach Abtreibungsversuch mit Chinin. Kasuistische Beobachtung. Münch. med. Wschr. 109, 2582–2583 (1967).

  13. Lenz, W.: Drugs and congenital abnormalities. Lancet 1962 II, 1332.

  14. Mäkelä, V.: Hernia diaphragmatica congenita spuria. Finska Läk. Sällsk. Handl. 58, 1107–1127 (1916).

  15. Mertins, H.: Über eine familiäre Zwerchfellmißbildung. Zbl. Gynäk. 74, 951–955 (1952).

  16. Patten, B. M.: Human Embryology. Sec. Ed., New York: McGraw-Hill Book Company 1953.

  17. Philipp, E. E., and M. O. Skelton: Congenital diaphragmatic hernia in siblings. Brit. Med. J. 1952 I, 1283–1284.

  18. Powell, P. D., and J. M. Johnstone: Phenmetrazine and foetal abnormalities. Brit. Med. J. 1962 II, 1327.

  19. Riker, W. L.: Congenital diaphragmatic hernia. Arch. Surg. 69, 291–306 (1954).

  20. Schäfer, H.: Die kongenitalen Zwerchfellhernien und Zwerchfelldefekte. In: Handbuch der Kinderheilkunde, Bd. IV, S. 1115 (Herausgeb. H. Opitz und F. Schmid). Berlin-Heidelberg-New York: Springer 1965

  21. Smithells, R. W.: Drugs and human malformations. In: Advances in Teratology vol. I, p. 271. (Editor: D. H. M. Woollam) London: Logos Press, Ltd. 1966.

  22. Snyder, W. H., and E. M. Greaney: Congenital diaphragmatic hernia; 77 consecutive cases. Surgery 57, 576–588 (1965).

  23. Sokolowska-Pituchowa, J., and J. Kusionowicz: Congenital diaphragmatic defects. Folia biol. (Kraków) 10, 213–220 (1962).

  24. Tuquan, N. A.: Some observations on congenital diaphragmatic hernias. J. Path Bact. 89, 370–372 (1965).

  25. Warkany, J., C. B. Roth, and J. G. Wilson: Multiple congenital malformations: a consideration of etiologic factors. Pediatrics 1, 462–471 (1948).

  26. Wells, L. J.: Development of human diaphragm and pleural sacs. Contr. Embryol. Carneg. Instn 35, 109–134 (1954).

  27. Zólciński, A., T. Heimrath, and M. Ujec: Chinina jako przyczyna wad rozwojowych płódu. Ginek. pol. 36, 935–938 (1965).

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This investigation was supported in part by USPHS International Postdoctoral Research Fellowship Grant No. FO 5-TW-1129, and by Public Health Service Research Grant No. HD-00635-04, from the National Institute of Child Health and Human Development.

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Passarge, E., Halsey, H. & German, J. Unilateral agenesis of the diaphragm. Hum Genet 5, 226–230 (1968). https://doi.org/10.1007/BF00281959

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  • Internal Medicine
  • Metabolic Disease
  • Recessive Gene
  • Familial Occurrence
  • Comparable Report