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

Clin Genet. 1976 Jan;9(1):25-34. doi: 10.1111/j.1399-0004.1976.tb01546.x.

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.

MeSH terms

  • Abnormalities, Multiple
  • Adolescent
  • Adult
  • Branchial Region*
  • Child
  • Cochlea / abnormalities
  • Ear, External / abnormalities*
  • Female
  • Fistula / genetics*
  • Hearing Disorders / genetics*
  • Humans
  • Kidney / abnormalities*
  • Male
  • Pedigree
  • Stapes / abnormalities
  • Syndrome