Branchio-oto-renal syndrome: incidence in three generations of a family.
It is well known that the persistence of alterations in the normal embryological development of branchial arches can lead to preauricular and cervical fistulas within a family. However, until 1970, there were no reports of dysplasia affecting the branchial, otic, and renal systems (BOR syndrome) with dominant autosomic inheritance. The authors report on a family with BOR syndrome of different expressivity in three generations, and describe an unusual case of bilateral fistulas of the first and second branchial arches in a newborn.
Gutierrez
C
C
Service of Pediatric Surgery, Virgen del Camino Hospital, Pamplona, Spain.
Bardají
C
C
Bento
L
L
Martinez
M A
MA
Conde
J
J
D000015:Abnormalities, Multiple / Q000235:genetics*; D001935:Branchioma / Q000453:epidemiology / Q000235:genetics*; D003638:Deafness / Q000235:genetics; D004423:Ear / Q000002:abnormalities*; D005260:Female; D005799:Genes, Dominant; D006258:Head and Neck Neoplasms / Q000453:epidemiology / Q000235:genetics*; D006801:Humans; D015994:Incidence; D007231:Infant, Newborn; D007668:Kidney / Q000002:abnormalities*; D008297:Male; D010375:Pedigree; D013577:Syndrome