Familial branchio-oto-renal dysplasia: A new addition to the branchial arch syndromes

Authors

  • Michael Melnick,

    Corresponding author
    1. Department of Oral-Facial Genetics, Indiana University School of Medicine, Indianapolis, Indiana 46202, USA.
      Department of Oral-Facial Genetics Indiana University School of Dentistry 1121 West Michigan Street Indianapolis, Indiana 46202 U.S.A.
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  • David Bixler,

    1. Department of Oral-Facial Genetics, Indiana University School of Medicine, Indianapolis, Indiana 46202, USA.
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  • Walter E. Nance,

    1. Department of Medical Genetics, Indiana University School of Medicine, Indianapolis, Indiana 46202, USA.
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  • Kenneth Silk,

    1. Department of Otolaryngology, Indiana University School of Medicine, Indianapolis, Indiana 46202, USA.
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  • Huen Yune

    1. Department of Radiology, Indiana University School of Medicine, Indianapolis, Indiana 46202, USA.
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Department of Oral-Facial Genetics Indiana University School of Dentistry 1121 West Michigan Street Indianapolis, Indiana 46202 U.S.A.

Abstract

The present report concerns a two-generation family of nine individuals in which the father and three of the six living children all had: (1) a mixed hearing loss with a Mondini type cochlear malformation and stapes fixation; (2) cup-shaped, anteverted pinnae with bilateral prehelical pits; (3) bilateral branchial cleft fistulas; and (4) bilateral renal dysplasia and anomalies of the collecting system. The father and one affected son also had aplasia of the lacrimal ducts. A fourth child who died at 5 months of age was reported to have branchial cleft fistulas and bilateral polycystic kidneys at autopsy. In addition, the concept of noso-embryologic communities is presented. Such groups are composed of syndromes whose total phenotypic spectra not only overlap but also share common elements in embryogenesis. This concept is illustrated with a group of branchial arch syndromes that are related in this way.

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