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Titolo:
TELENCEPHALOSYNAPSIS (SYNENCEPHALY) AND RHOMBENCEPHALOSYNAPSIS WITH POSTERIOR-FOSSA VENTRICULOCELE (DANDY-WALKER CYST) - AN UNUSUAL ABERRANT SYNGENETIC COMPLEX
Autore:
SERGI C; HENTZE S; SOHN C; VOIGTLANDER T; JUNG C; SCHMITT HP;
Indirizzi:
UNIV HEIDELBERG,INST PATHOL & NEUROPATHOL,NEUENHEIMER FELD 220-221 D-69120 HEIDELBERG GERMANY UNIV HEIDELBERG,INST HUMAN GENET D-69120 HEIDELBERG GERMANY UNIV HEIDELBERG,INST PATHOL D-69120 HEIDELBERG GERMANY UNIV HEIDELBERG,INST NEUROPATHOL D-69120 HEIDELBERG GERMANY UNIV HEIDELBERG,DEPT OBSTET D-69120 HEIDELBERG GERMANY
Titolo Testata:
Brain & development
fascicolo: 6, volume: 19, anno: 1997,
pagine: 426 - 432
SICI:
0387-7604(1997)19:6<426:T(ARWP>2.0.ZU;2-D
Fonte:
ISI
Lingua:
ENG
Soggetto:
OCCIPITAL ENCEPHALOCELE; CEREBELLAR HEMISPHERES; INVERSE CEREBELLUM; ARNOLD-CHIARI; AGENESIS; VERMIS; FUSION; ANOMALIES; MRI;
Keywords:
TELENCEPHALOSYNAPSIS; RHOMBENCEPHALOSYNAPSIS; DANDY-WALKER CYST;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
40
Recensione:
Indirizzi per estratti:
Citazione:
C. Sergi et al., "TELENCEPHALOSYNAPSIS (SYNENCEPHALY) AND RHOMBENCEPHALOSYNAPSIS WITH POSTERIOR-FOSSA VENTRICULOCELE (DANDY-WALKER CYST) - AN UNUSUAL ABERRANT SYNGENETIC COMPLEX", Brain & development, 19(6), 1997, pp. 426-432

Abstract

Agenesis of the cerebellar vermis (paleocerebellar agenesis) with fusion of the cerebellar hemispheres (rhombencephalosynapsis) is a rare malformation of the central nervous system (CNS). Its combination with synencephaly (telencephalosynapsis), telencephalic ventricular aplasia, aqueductal atresia and cystic fourth ventricle has not yet been described, as far as we know, Here, we report this combination in a 23-weeks' gestation male fetus who was aboard to a 24-year-old diabetic mother. In this fetus with cerebral and cerebellar hemispheric fusion, vermian agenesis was associated with a Dandy-Walker-like posterior fossa cyst, in spite of the fusion of the hypoplastic cerebellar hemispheres. The CNS malformations were further accompanied by dysmorphic facial stigmata such as unilateral atresia of the external ear, ocular hypertelorism and a broad nasal bridge. Preaxial polydactyly and contractures of the upper limbs were the only associated non-cranial abnormalities. Cytogenetic studies revealed a numerically and structurally normal male (46, XY). The malformation complex described in this fetus of a mother with antedating pregnancy diabetes appears to represent a previously undescribed aberrant syngenetic CNS phenotype, some basic teratogenetic aspects of which will be discussed in this paper. (C) 1997 Elsevier Science B.V.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 13/08/20 alle ore 11:04:53