Intrafamilial variability in cleidocranial dysplasia: A three generation family

Authors

  • M.D. David Chitayat,

    Corresponding author
    1. Department of Pediatrics, Division of Medical, Genetics, The Montreal Children's Hospital, and The Center for Human Genetics, McGill University, Montreal, Quebec, Canada
    • Division of Medical Genetics, The Montreal Children's Hospital, 2300 Rue Tupper, Montreal, Quebec, H3H 1P3 Canada
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  • Kathy A. Hodgkinson,

    1. Department of Pediatrics, Division of Medical, Genetics, The Montreal Children's Hospital, and The Center for Human Genetics, McGill University, Montreal, Quebec, Canada
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  • E. Michel Azouz

    1. Department of Radiology, The Montreal Children's Hospital, and The Center for Human Genetics, McGill University, Montreal, Quebec, Canada
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Abstract

We present a 3-generation family, ascertained after the birth of a child with cleidocranial dysplasia (CCD). The propositus presented with respiratory distress (due to a narrow thorax) and hypoplasia and discontinuity of both clavicles. The mother, aunt, and grandmother had varied features of the condition. This intrafamilial variation illustrates the need for clinical assessment of family members following the birth of an apparent sporadic case of CCD.

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