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Branchio-oto-renal syndrome: incidence in three generations of a family.

作者信息

Gutierrez C, Bardají C, Bento L, Martinez M A, Conde J

机构信息

Service of Pediatric Surgery, Virgen del Camino Hospital, Pamplona, Spain.

出版信息

J Pediatr Surg. 1993 Dec;28(12):1527-9. doi: 10.1016/0022-3468(93)90086-z.

Abstract

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.

摘要

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