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Familial congenital diaphragmatic defect: Review and conclusions

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Summary

Seventeen reports dealing with familial congenital diaphragmatic defect are reviewed briefly. There are only weak hints of heterogeneity between sporadic and familial cases. It is concluded that multifactorial inheritance is the most likely explanation for the observed familial incidence of this malformation.

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Abbreviations

affected child:

deceased shortly after birth

f.h.:

family history

res. strip.:

residual diaphragmatic strip

r:

right-sided defect

1:

left-sided defect

VSD:

defect of the ventricular septum

ASD:

atrial septal defect

TAC:

truncus arteriosus communis

AoISt:

stenosis of the aortic isthmus

PDA:

persistent ductus arteriosus Botalli

References

  • Bonham Carter, R. E., Waterston, D. J., Aberdeen, E.: Hernia and eventration of the diaphragm in childhood. Lancet 1962I, 656–569

  • Briggs, V. A., Reilly, B. J., Loewig, K: Lung hypoplasia and membraneous diaphragm in the congenital rubella syndrome—a rare case. J. Can. Assoc. Radiol. 24, 126–127 (1973)

    Google Scholar 

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

  • Daentl, D. L., Passarge, E.: Familial agenesis of diaphragm. Birth Defects 8 (2), 24–26 (1972)

    Google Scholar 

  • David, T. J., Illingworth, C. A.: Diaphragmatic hernia in the south-west of England. J. Med. Genet. 13, 253–262 (1976)

    Google Scholar 

  • Delattre, A., Buisine, A., Delegrauge, D.: Hernie diaphragmatique congénitale de l'estomac chez deux sœurs. Rôle probable de l'hérédité. J.Sc.Médic. Lille 69, 165–169 (1951)

    Google Scholar 

  • Edwards, J. H.: The simulation of Mendelism. Acta Genet. 10, 63–70 (1960)

    Google Scholar 

  • Feingold, M.: Aplasia of diaphragm. Pediatrics 47, 601–603 (1971)

    Google Scholar 

  • Fryns, J. P., Moerman, F., Goddeeris, P., Bossuyt, C., Van den Berghe, H.: A new lethal syndrome with cloudy corneae, diaphragmatic defects and distal limb deformities. Hum. Genet. 50, 65–70 (1979)

    Google Scholar 

  • Greenwood, R. D., Rosenthal, A., Sommer, A., Wolff, G., Craenen, J.: Cardiovascular malformations in oculoauriculovertebral dysplasia (Goldenhar syndrome). J. Pediatr. 85, 816–818 (1974)

    Google Scholar 

  • Gross, R. E. (1953), cited in Warkany, J.: Congenital malformations, p. 753. Chicago: Year Book Medical Publishers 1971

    Google Scholar 

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

    Google Scholar 

  • Hobolth, N.: Drugs and congenital abnormalities (letter). Lancet 1962II, 1333–1334

  • Jensen, M., Altrogge, H. C.: Familiäre Zwerchfellageesie. Monatsschr. Kinderheilk. 119, 609–610 (1971)

    Google Scholar 

  • Kunze, J., Heyne, K., Wiedemann, H.-R.: Diaphragmatic hernia in a female newborn with focal dermal hypoplasia and marked asymmetric malformations (Goltz-Gorlin syndrome). Eur. J. Pediatr. 131, 213–218 (1979)

    Google Scholar 

  • Kup, J.: Zwerchfelldefekt nach Abtreibungsversuch mit Chinin. Münch. Med. Wochenschr. 27, 2582–2583 (1967)

    Google Scholar 

  • Leck, I., Record, R. G., McKeown, T., Edwards, J. H.: The incidence of malformations in Birmingham, England, 1950–1959. Teratology 1, 263–280 (1968)

    Google Scholar 

  • Le Marec, B., Bracq, H., Le Frèche, J.-N., Babut, J.-M.: Le conseil génétique dans une forme familiale de hernie diaphragmatique. Ouest Méd. 30, 367–370 (1977)

    Google Scholar 

  • Lenz, W.: Drugs and congenital abnormalities (letter). Lancet 1962II, 1332–1333

  • Lenz, W.: In: Humangenetik III/1. Becker, P. E. (ed.), p. 272. Stuttgart: Thieme 1964

    Google Scholar 

  • Lilly, J. R., Paul, M., Rosser, S. B.: Anterior diaphragmatic hernia: Familial presentation. Birth Defects 10 (4), 257–258 (1974)

    Google Scholar 

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

    Google Scholar 

  • Masse, N. P., Bader, J. P.: Signes cliniques, évolution et traitement médical des malpositions oesophago-cardio-tubérositaires chez l'enfant. XVIe Congrès de Pédiatres de langue française, pp. 83–84. Paris: Expansion Scientifique Française 1957

    Google Scholar 

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

    Google Scholar 

  • Nishimura, H., Tanimura, T.: Clinical aspects of the teratogenicity of drugs, p. 232. Amsterdam: Excerpta Medica 1976

    Google Scholar 

  • Passarge, E., Halsey, H., German, J.: Unilateral agenesis of the diaphragm. Hum. Genet. 5, 226–230 (1968)

    Google Scholar 

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

  • Pollack, L. D., Hall, J. G.: Posterolateral (Bochdalek's) diaphragmatic hernia in sisters. Am. J. Dis. Child. 133, 1186–1188 (1979)

    Google Scholar 

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

  • Putschar, W. G. J., Manion, W. C.: Congenital absence of spleen and associated anomalies. Am. J. Clin. Pathol. 26, 429–470 (1956)

    Google Scholar 

  • Scott, J. M., Patterson, L.: Monozygous anencephalic triplets—a case report. J. Obstet. Gynecol. Br. Commonw. 73, 147–151 (1966)

    Google Scholar 

  • Ten Kate, L. P., Anders, G. J. P. A.: Unilateral agenesis of the diaphragm. Hum. Genet. 8, 366–367 (1970)

    Google Scholar 

  • Thomas, M. P., Stern, L. M., Morris, L. L.: Bilateral congenital diaphragmatic defects in two siblings. J. Pediatr. Surg. 11, 465–467 (1976)

    Google Scholar 

  • Thorburn, M. J., Wright, E. S., Miller, C. G., Smith-Read, E. H. M.: Exomphalos-macroglossia-gigantism syndrome in Jamaican infants. Am. J. Dis. Child. 119, 316–321 (1970)

    Google Scholar 

  • Turpin, R., Petit, P., Chigot, P., Lafourcade, J., DeBarochez, Y.: Hernie diaphragmatique congénitale de type embryonnaire (fente pleuro-péritonéale gauche). Coincidence chez deux cousins germains de cette malformation isolée. Ann. Pédiatr. 35, 272–279 (1959)

    Google Scholar 

  • Warkany, J., Roth, C. B.: Congenital malformations induced in rats by maternal vitamin A deficiency. J. Nutrition 35, 1–11 (1948)

    Google Scholar 

  • Welch, R. G., Cooke, R. T.: Congenital diaphragmatic hernia. Lancet 1962I, 975

  • Wolff, G., Böhm, N.: Familiärer Zwerchfelldefekt. In: Klinische Genetik in der Pädiatrie. Spranger, J. (ed.). Stuttgart: Thieme (in press, 1980)

    Google Scholar 

  • Wolff, G., Böhm, N., Pringsheim, W.: Kongenitaler Zwerchfelldefekt bei Geschwistern. Zwei Fallberichte. Monatsschr. Kinderheilk. (in press, 1980)

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  1. Institut für Humangenetik der Universität Freiburg, Albertstraße 11, D-7800, Freiburg, Federal Republic of Germany

    G. Wolff

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  1. G. Wolff
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Wolff, G. Familial congenital diaphragmatic defect: Review and conclusions. Hum Genet 54, 1–5 (1980). https://doi.org/10.1007/BF00279041

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  • DOI: https://doi.org/10.1007/BF00279041

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