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Titolo:
A new familial syndrome with facial abnormalities, abnormal EEG, and mental retardation
Autore:
Megarbane, A;
Indirizzi:
St Josephs Univ, Fac Med, Lab Biol Mol & Cytogenet, Unite Genet Med, Beirut, Lebanon St Josephs Univ Beirut Lebanon ogenet, Unite Genet Med, Beirut, Lebanon
Titolo Testata:
CLINICAL DYSMORPHOLOGY
fascicolo: 2, volume: 10, anno: 2001,
pagine: 129 - 133
SICI:
0962-8827(200104)10:2<129:ANFSWF>2.0.ZU;2-L
Fonte:
ISI
Lingua:
ENG
Soggetto:
MCA/MR SYNDROME; CODAS SYNDROME; ANOMALIES; HYPOPLASIA;
Keywords:
abnormal EEG; bifid nose; hypertelorism; mental retardation; ptosis; up-slanting palpebral fissures;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Citazioni:
10
Recensione:
Indirizzi per estratti:
Indirizzo: Megarbane, A St Josephs Univ, Fac Med, Unite Genet Med, 42 Rue Grenelle, F-75007 Paris,France St Josephs Univ 42 Rue Grenelle Paris France F-75007 ,France
Citazione:
A. Megarbane, "A new familial syndrome with facial abnormalities, abnormal EEG, and mental retardation", CLIN DYSMOR, 10(2), 2001, pp. 129-133

Abstract

Two sisters are reported with up-slanting palpebral fissures, hypertelorism, ptosis, a broad, bifid nasal tip, a high-arched palate, mental retardation, abnormal EEG and hand malformations in one of the patients. The girls' parents originate from the same village. Although the findings resemble therecently defined neurofaciodigitorenal syndrome, some findings suggest that this is a newly recognized syndrome.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 14/07/20 alle ore 10:08:52