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Familial branchio‐oto‐renal dysplasia: A new addition to the branchial arch syndromes
Author(s) -
Melnick Michael,
Bixler David,
Nance Walter E.,
Silk Kenneth,
Yune Huen
Publication year - 1976
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1976.tb01546.x
Subject(s) - branchial arch , medicine , renal dysplasia , dysplasia , anatomy , dermatology , genetics , biology , kidney , embryo
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.