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Titolo:
A SURVEY OF PHENOTYPIC FEATURES IN JUVENILE POLYPOSIS
Autore:
DESAI DC; MURDAY V; PHILLIPS RKS; NEALE KF; MILLA P; HODGSON SV;
Indirizzi:
GUYS HOSP,DIV MED & MOL GENET,UMDS,GUYS TOWER LONDON SE1 9RT ENGLAND GUYS HOSP,DIV MED & MOL GENET,UMDS LONDON SE1 9RT ENGLAND ST MARKS HOSP,POLYPOSIS REGISTRY HARROW HA1 3UJ MIDDX ENGLAND HOSP SICK CHILDREN LONDON WC1N 3JH ENGLAND ST GEORGE HOSP,S THAMES REG GENET CTR W LONDON SW17 0QT ENGLAND
Titolo Testata:
Journal of Medical Genetics
fascicolo: 6, volume: 35, anno: 1998,
pagine: 476 - 481
SICI:
0022-2593(1998)35:6<476:ASOPFI>2.0.ZU;2-C
Fonte:
ISI
Lingua:
ENG
Soggetto:
RILEY-RUVALCABA-SYNDROME; CELL CARCINOMA SYNDROME; GENE; FAMILIES;
Keywords:
JUVENILE POLYPOSIS; COWDEN SYNDROME; GORLIN SYNDROME; BANNAYAN-RILEY-RUVALCABA SYNDROME;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
35
Recensione:
Indirizzi per estratti:
Citazione:
D.C. Desai et al., "A SURVEY OF PHENOTYPIC FEATURES IN JUVENILE POLYPOSIS", Journal of Medical Genetics, 35(6), 1998, pp. 476-481

Abstract

Solitary juvenile polyps are quite frequent in children, but juvenilepolyposis (TP) is a rare autosomal dominant trait characterised by the occurrence of numerous polyps in the gastrointestinal tract. Extracolonic phenotypic abnormalities are well documented in patients with familial adenomatous polyposis and Peutz-Jeghers syndrome and can allow a clinical diagnosis to be made before the bowel pathology becomes available. Though described, characteristic extracolonic abnormalities have not been clearly defined in juvenile polyposis. We sought to determine whether there are consistent extracolonic phenotypic abnormalitiesin JP patients and how frequently this would allow diagnosis of one of the genetic syndromes known to be associated with juvenile polyposis. Twenty-two JP patients underwent clinical examination and data from one patient were obtained from case notes. Those consenting to furtherinvestigations had x rays of the skull, chest, and hands and an echocardiogram if clinically indicated. Significant extracolonic phenotypicabnormalities were present in 18 patients (14 male and four female), and included dermatological (13), skeletal (16), neurological (5), cardiopulmonary (4), gastrointestinal (3), genitourinary (4), and ocular (1) features. In five patients the diagnosis of a genetic syndrome waspossible: two had Bannayan-Riley-Ruvalcaba syndrome, two had Gorlin syndrome, and one had hereditary haemorrhagic telangiectasia (HHT, alsoknown as Osler-Rendu-Weber syndrome). Other patients had some features of these conditions and of Cowden and Simpson-Golabi-Behmel syndromes, but these were not sufficient to allow a definitive diagnosis.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 24/09/20 alle ore 07:14:33