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Titolo:
Congenital cholesteatoma and malformations of the facial nerve: Rare manifestations of the BOR syndrome
Autore:
Graham, GE; Allanson, JE;
Indirizzi:
Alberta Childrens Prov Gen Hosp, Dept Med Genet, Calgary, AB T2T 5C7, Canada Alberta Childrens Prov Gen Hosp Calgary AB Canada T2T 5C7 T2T 5C7, Canada Univ Calgary, Calgary, AB T2N 1N4, Canada Univ Calgary Calgary AB Canada T2N 1N4 lgary, Calgary, AB T2N 1N4, Canada Childrens Hosp Eastern Ontario, Dept Genet, Ottawa, ON, Canada Childrens Hosp Eastern Ontario Ottawa ON Canada enet, Ottawa, ON, Canada Univ Ottawa, Ottawa, ON K1N 6N5, Canada Univ Ottawa Ottawa ON Canada K1N 6N5 v Ottawa, Ottawa, ON K1N 6N5, Canada
Titolo Testata:
AMERICAN JOURNAL OF MEDICAL GENETICS
fascicolo: 1, volume: 86, anno: 1999,
pagine: 20 - 26
SICI:
0148-7299(19990903)86:1<20:CCAMOT>2.0.ZU;2-X
Fonte:
ISI
Lingua:
ENG
Soggetto:
MIDDLE-EAR CHOLESTEATOMAS; INTACT TYMPANIC MEMBRANE; OTO-RENAL SYNDROME; BRANCHIOOTORENAL SYNDROME; CHILDREN; ANOMALIES; GENERATIONS; ORIGIN; GENE;
Keywords:
BOR; branchio-oto-renal; cholesteatoma; facial nerve; autosomal dominant; review;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
50
Recensione:
Indirizzi per estratti:
Indirizzo: Graham, GE Alberta Childrens Prov Gen Hosp, Dept Med Genet, 1820 Richmond Rd SW, Calgary, AB T2T 5C7, Canada Alberta Childrens Prov Gen Hosp 1820 Richmond Rd SW Calgary AB Canada T2T 5C7
Citazione:
G.E. Graham e J.E. Allanson, "Congenital cholesteatoma and malformations of the facial nerve: Rare manifestations of the BOR syndrome", AM J MED G, 86(1), 1999, pp. 20-26

Abstract

We describe a 14-month-old girl with unilateral congenital cholesteatoma and anomalies of the facial nerve in addition to the more common branchial arch, otic, and renal malformations comprising the branchio-oto-renal (BOR) syndrome. Her mother also has the BOR syndrome and unilateral duplication of the facial nerve. This is the first study of a BOR patient with congenital cholesteatoma and the second family in which cholesteatoma and anomalies of the facial nerve are described in patients with the BO/BOR syndrome. We review the congenital cholesteatoma literature and discuss hypotheses for the pathogenesis of this entity in light of this new report. Am. J. Med. Genet. 86:20-26, 1999. (C) 1999 Wiley-Liss, Inc.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 30/11/20 alle ore 16:24:00