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Titolo:
Duane's syndrome
Autore:
Gutowski, NJ;
Indirizzi:
Royal Devon & Exeter Hosp, Dept Neurol, Exeter EX2 5DW, Devon, England Royal Devon & Exeter Hosp Exeter Devon England EX2 5DW DW, Devon, England
Titolo Testata:
EUROPEAN JOURNAL OF NEUROLOGY
fascicolo: 2, volume: 7, anno: 2000,
pagine: 145 - 149
SICI:
1351-5101(200003)7:2<145:DS>2.0.ZU;2-C
Fonte:
ISI
Lingua:
ENG
Soggetto:
OCULO-ACOUSTIC SYNDROME; CHIARI-I MALFORMATION; RETRACTION-SYNDROME; UROGENITAL ABNORMALITIES; MENTAL-RETARDATION; MONOZYGOTIC TWINS; CLINICAL-FEATURES; OKIHIRO SYNDROME; CHROMOSOME-22; WILDERVANCK;
Keywords:
axonal guidance; Duane's syndrome; genetic; strabismus;
Tipo documento:
Review
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Citazioni:
60
Recensione:
Indirizzi per estratti:
Indirizzo: Gutowski, NJ Royal Devon & Exeter Hosp, Dept Neurol, Barrack Rd, Exeter EX2 5DW, Devon,England Royal Devon & Exeter Hosp Barrack Rd Exeter Devon England EX2 5DW
Citazione:
N.J. Gutowski, "Duane's syndrome", EUR J NEUR, 7(2), 2000, pp. 145-149

Abstract

Duane's syndrome is an unusual congenital form of strabismus where there is paradoxical anomalous lateral rectus innervation of the affected eye due to misdirection of axons destined for the medial rectus. Three types of Duane's syndrome are recognized. Most cases of Duane's syndrome are sporadic but up to 10% are familial, usually with autosomal dominant inheritance. Several autosomal dominant syndromes with dysmorphic features are associated with Duane's syndrome. Chromosomal loci for genes contributing to Duane's syndrome have been suggested at 4q, 8q and 22q. Duane's syndrome is heterogeneous at multiple levels with variations in its ocular manifestations, accompanying systemic manifestations and in the chromosomal loci with which it may be associated. The definition clinically and genetically of the various subgroups of Duane's syndrome will provide a valuable insight into brainstem axonal guidance to the extraocular muscles during human development.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 07/04/20 alle ore 23:00:36