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Titolo:
MENTAL-RETARDATION, IRIS COLOBOMA, OPTIC ATROPHY AND DISTINCTIVE FACIAL APPEARANCE IN 2 SIBS
Autore:
ALGAZALI LI;
Indirizzi:
UNITED ARAB EMIRATES UNIV,FAC MED & HLTH SCI,DEPT PAEDIAT,POB 17666 AL AIN U ARAB EMIRATES
Titolo Testata:
Clinical dysmorphology
fascicolo: 3, volume: 7, anno: 1998,
pagine: 201 - 203
SICI:
0962-8827(1998)7:3<201:MICOAA>2.0.ZU;2-J
Fonte:
ISI
Lingua:
ENG
Soggetto:
PTOSIS; HYPERTELORISM;
Keywords:
MENTAL RETARDATION; IRIS COLOBOMA; OPTIC ATROPHY;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
6
Recensione:
Indirizzi per estratti:
Citazione:
L.I. Algazali, "MENTAL-RETARDATION, IRIS COLOBOMA, OPTIC ATROPHY AND DISTINCTIVE FACIAL APPEARANCE IN 2 SIBS", Clinical dysmorphology, 7(3), 1998, pp. 201-203

Abstract

We report an inbred Arab family from the United Arab Emirates with two children affected with mental retardation, iris coloboma, optic atrophy, nystagmus, and a distinctive facial appearance. This includes a long narrow face, downslanting palpebral fissures, a narrow nose with hypoplasia of the alae nasi, a small philtrum and a thin upper lip. We suggest that the combination of abnormalities in these children represents a previously undescribed autosomal recessive syndrome. Clin Dysmorphol 7: 201-203. (C) 1998 Lippincott-Raven Publishers.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 10/07/20 alle ore 09:49:06