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Titolo:
CLINICAL AND IMMUNOHISTOCHEMICAL FINDINGS IN A CASE OF NEONATAL MARFAN-SYNDROME
Autore:
HANSEUS K; LUNDBERG LM; BJORKHEM G; DAHLBACK K; HAGERSTRAND I; KRISTOFFERSSON U;
Indirizzi:
UNIV LUND HOSP,DEPT PAEDIAT S-22185 LUND SWEDEN UNIV LUND HOSP,DEPT PATHOL & CYTOL S-22185 LUND SWEDEN UNIV LUND HOSP,DEPT DERMATOL & VENEROL S-22185 LUND SWEDEN UNIV LUND HOSP,DEPT CLIN GENET S-22185 LUND SWEDEN
Titolo Testata:
Acta paediatrica
fascicolo: 11, volume: 84, anno: 1995,
pagine: 1329 - 1332
SICI:
0803-5253(1995)84:11<1329:CAIFIA>2.0.ZU;2-X
Fonte:
ISI
Lingua:
ENG
Soggetto:
FIBRILLIN; DIAGNOSIS; CHROMOSOME-15; MANAGEMENT; COMPONENT; GENE;
Keywords:
IMMUNOHISTOCHEMISTRY; INTRAUTERINE CARDIOMEGALY; MARFAN SYNDROME; MUTATION ANALYSIS; NEONATAL PERIOD;
Tipo documento:
Note
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
22
Recensione:
Indirizzi per estratti:
Citazione:
K. Hanseus et al., "CLINICAL AND IMMUNOHISTOCHEMICAL FINDINGS IN A CASE OF NEONATAL MARFAN-SYNDROME", Acta paediatrica, 84(11), 1995, pp. 1329-1332

Abstract

A newborn girl with extreme cardiomegaly discovered by fetal ultrasound after 34 gestational weeks is presented. The girl was delivered through a Caesarean section. After birth, multiple skeletal stigmata and generalized cardiac involvement with abnormal valves and dilated greatarteries suggested Marfan syndrome. The girl died at the age of 10 h. The postmortem examinations showed cardiovascular lesions typical of Marfan syndrome. Immunofluorescence studies from cultured fibroblasts of the patient showed decreased amounts of immunostained fibrous material, supporting the clinical diagnosis of a severe Marfan syndrome.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 26/09/20 alle ore 23:58:53