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Familial combination of brachydactyly, type E and atrial septal defect, type II

  • Medical Genetics
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Abstract

Nine members of a three generation family were affected with the combination of brachydactyly, type E and heart defect, mainly atrial septal defect, type II. A similar malformation pattern of autosomal dominant origin has not previously been delineated.

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Abbreviations

ASD:

atrial septal defect

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Authors and Affiliations

  1. Department of Human Genetics and Teratology, WHO Collaborating Centre for the Community Control of Hereditary Diseases, National Institute of Hygiene, H-1097, Budapest, Hungary

    A. Czeizel

  2. Department of Human Genetics, Postgraduate Medical University, H-1097, Budapest, Hungary

    P. Göblyös

Authors
  1. A. Czeizel
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  2. P. Göblyös
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Czeizel, A., Göblyös, P. Familial combination of brachydactyly, type E and atrial septal defect, type II. Eur J Pediatr 149, 117–119 (1989). https://doi.org/10.1007/BF01995860

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  • DOI: https://doi.org/10.1007/BF01995860

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