Multiple branchiogenic anomalies.
A family with three generations of male-to-male transmission of a rare syndrome is presented. The syndrome includes bilateral cervical branchial sinuses, bilateral preauricular sinuses, bilateral malformed auricles and bilateral hearing impairment. Two important aspects of this syndrome are discussed. First, male-to-male transmission rules out a sex-linked mode of inheritance. Second, the finding of both conductive and sensorineural hearing loss is puzzling since the middle and inner ear differ in embryogenesis as to both origin and timing. Few explanatory mechanisms are discussed.
Har-El
G
G
Department of Otolaryngology, SUNY-Health Sciences Center, Brooklyn.
Hadar
T
T
Krespi
Y P
YP
D000015:Abnormalities, Multiple / Q000235:genetics*; D001934:Branchial Region / Q000002:abnormalities*; D002648:Child; D006312:Hearing Loss, Bilateral / Q000235:genetics* / Q000503:physiopathology; D006801:Humans; D008297:Male; D010375:Pedigree; D010641:Phenotype