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Familial isolated pulmonary hypoplasia: a case report, suggesting autosomal recessive inheritance

  • Pneumology
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Abstract

The exceptional observation of a healthy couple with two girls and a boy suffering from pulmonary hypoplasia and two normal children is reported. The affected infants died 1, 2 and 20 h after birth respectively. No other malformations were found. Histological findings suggest that the underdevelopment of the lungs has its origin at a more proximal level than the terminal bronchioles. Autosomal recessive inheritance is suggested.

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Authors and Affiliations

  1. Intensive Care Unit, University Children's Hospital, Inselspital, CH-3010, Berne, Switzerland

    B. Frey

  2. Department of Pathology, University Hospital, Inselspital, CH-3010, Berne, Switzerland

    A. Fleischhauer

  3. Department of Medical Genetics, University Children's Hospital, Inselspital, CH-3010, Berne, Switzerland

    M. Gersbach

Authors
  1. B. Frey
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  2. A. Fleischhauer
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  3. M. Gersbach
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Frey, B., Fleischhauer, A. & Gersbach, M. Familial isolated pulmonary hypoplasia: a case report, suggesting autosomal recessive inheritance. Eur J Pediatr 153, 460–463 (1994). https://doi.org/10.1007/BF01983413

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  • DOI: https://doi.org/10.1007/BF01983413

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