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Unilateral agenesis of the diaphragm

Summary

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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Additional information

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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Keywords

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