Record 1 of 5 in MEDLINE EXPRESS (R) 1996-1998
TITLE: Rhombencephalosynapsis: cerebellar embryogenesis.
AUTHOR(S): Utsunomiya-H; Takano-K; Ogasawara-T; Hashimoto-T; Fukushima-T; Okazaki-M
ADDRESS OF AUTHOR: Department of Diagnostic Radiology, Fukuoka University Hospital, Japan.
SOURCE (BIBLIOGRAPHIC CITATION): AJNR-Am-J-Neuroradiol. 1998 Mar; 19(3): 547-9
INTERNATIONAL STANDARD SERIAL NUMBER: 0195-6108
PUBLICATION YEAR: 1998
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: We describe two infants in whom rhombencephalosynapsis was diagnosed with MR imaging in vivo. In contrast to Dandy-Walker malformation, the vermian maldevelopment in this anomaly is characterized by an absence of the anterior vermis and a deficiency of the posterior vermis. The cerebellar hemispheres are fused. In an attempt to identify the pathogenesis of these anatomic manifestations, we question the traditional concept of the embryologic development of the cerebellar primordium.
MINOR MESH HEADINGS: Brain-pathology; Cerebellum-pathology; Child,-Preschool; Fetal-Development-physiology; Magnetic-Resonance-Imaging
MAJOR MeSH HEADINGS: *Cerebellum-abnormalities; *Cerebellum-embryology
CHECKTAGS: Case-Report; Human; Male
PUBLICATION TYPE: JOURNAL-ARTICLE; REVIEW; REVIEW-OF-REPORTED-CASES
MEDLINE ACCESSION NUMBER: 1998200387
UPDATE CODE: 199807
Record 2 of 5 in MEDLINE EXPRESS (R) 1996-1998
TITLE: Telencephalosynapsis (synencephaly) and rhombencephalosynapsis with posterior fossa ventriculocele ('Dandy-Walker cyst'): an unusual aberrant syngenetic complex.
AUTHOR(S): Sergi-C; Hentze-S; Sohn-C; Voigtlander-T; Jung-C; Schmitt-HP
ADDRESS OF AUTHOR: Institute of Pathology, University of Heidelberg, Germany.
SOURCE (BIBLIOGRAPHIC CITATION): Brain-Dev. 1997 Sep; 19(6): 426-32
INTERNATIONAL STANDARD SERIAL NUMBER: 0387-7604
PUBLICATION YEAR: 1997
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: NETHERLANDS
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 aborted 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.
MINOR MESH HEADINGS: Adult-; Cerebral-Ventricles-pathology; Cranial-Fossa,-Posterior-pathology; Pregnancy-; Rhombencephalon-pathology; Telencephalon-pathology
MAJOR MeSH HEADINGS: *Cerebral-Ventricles-abnormalities; *Cranial-Fossa,-Posterior-abnormalities; *Dandy-Walker-Syndrome-pathology; *Rhombencephalon-abnormalities; *Telencephalon-abnormalities
CHECKTAGS: Case-Report; Female; Human; Male
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 1997479792
UPDATE CODE: 199802
Record 3 of 5 in MEDLINE EXPRESS (R) 1996-1998
TITLE: Rhombencephalosynapsis with facial anomalies and probable autosomal recessive inheritance: a case report.
AUTHOR(S): Romanengo-M; Tortori-Donati-P; Di-Rocco-M
ADDRESS OF AUTHOR: 2nd Department of Pediatrics, G. Gaslini Institute, Genova, Italy.
SOURCE (BIBLIOGRAPHIC CITATION): Clin-Genet. 1997 Sep; 52(3): 184-6
INTERNATIONAL STANDARD SERIAL NUMBER: 0009-9163
PUBLICATION YEAR: 1997
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: DENMARK
ABSTRACT: We report a 16-year-old boy, born to consanguineous parents, with mental retardation, gait disturbances and dysarthria; brain magnetic resonance showed features consistent with rhombencephalosynapsis. This condition is characterised by a hypoplastic single-lobed cerebellum. The interest of this case is the presence of common ancestors, pointing to an autosomal recessive inheritance of the malformation.
MINOR MESH HEADINGS: Abnormalities,-Multiple-pathology; Adolescence-; Cerebellum-abnormalities; Cerebellum-radiography; Chromosome-Abnormalities-pathology; Consanguinity-; Dysarthria-genetics; Dysarthria-pathology; Gait-genetics; Gait-physiology; Genes,-Recessive-genetics; Genes,-Recessive-physiology; Magnetic-Resonance-Imaging; Mental-Retardation-genetics; Mental-Retardation-pathology; Rhombencephalon-pathology
MAJOR MeSH HEADINGS: *Abnormalities,-Multiple-genetics; *Chromosome-Abnormalities-genetics; *Face-abnormalities; *Rhombencephalon-abnormalities
CHECKTAGS: Case-Report; Human; Male
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 1998018321
UPDATE CODE: 199801
Record 4 of 5 in MEDLINE EXPRESS (R) 1996-1998
TITLE: Rhombencephalosynapsis associated with hand anomalies.
AUTHOR(S): Aydingoz-U; Cila-A; Aktan-G
ADDRESS OF AUTHOR: Department of Radiology, Hacettepe University Medical Center, Ankara, Turkey.
SOURCE (BIBLIOGRAPHIC CITATION): Br-J-Radiol. 1997 Jul; 70(835): 764-6
INTERNATIONAL STANDARD SERIAL NUMBER: 0007-1285
PUBLICATION YEAR: 1997
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: ENGLAND
ABSTRACT: A case of rhombencephalosynapsis, a very rare disorder characterized by agenesis or hypogenesis of the cerebellar vermis and fusion of the cerebellar hemispheres, is reported with magnetic resonance imaging features. Radiographs showed anomalies in both hands; namely phalangeal hypoplasia and occult polydactyly in the right hand and syndactyly in the left, previously unreported in association with this disorder.
MINOR MESH HEADINGS: Abnormalities,-Multiple-radiography; Cerebellar-Nuclei-abnormalities; Infant-; Magnetic-Resonance-Imaging
MAJOR MeSH HEADINGS: *Abnormalities,-Multiple-diagnosis; *Cerebellum-abnormalities; *Hand-Deformities,-Congenital-radiography
CHECKTAGS: Case-Report; Female; Human
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 1997388657
UPDATE CODE: 199710
SUBSET: AIM
Record 5 of 5 in MEDLINE EXPRESS (R) 1996-1998
TITLE: Aventriculy: a new entity?
AUTHOR(S): Garfinkle-WB
ADDRESS OF AUTHOR: Department of Radiology, Albert Einstein Medical Center, Philadelphia, PA 19141, USA.
SOURCE (BIBLIOGRAPHIC CITATION): AJNR-Am-J-Neuroradiol. 1996 Oct; 17(9): 1649-50
INTERNATIONAL STANDARD SERIAL NUMBER: 0195-6108
PUBLICATION YEAR: 1996
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: In an 11-year-old girl who had repeated episodes of aspiration pneumonia, no lateral ventricles and no third or fourth ventricle could be identified on T1-, T2-, or proton density-weighted MR images. This condition was associated with failure of midline cleavage of the cerebral hemispheres, rhombencephalosynapsis, and complex migrational disorders.
MINOR MESH HEADINGS: Brain-pathology; Cerebral-Ventricles-pathology; Child-; Pneumonia,-Aspiration-congenital; Recurrence-
MAJOR MeSH HEADINGS: *Abnormalities,-Multiple-diagnosis; *Brain-abnormalities; *Cerebral-Ventricles-abnormalities; *Holoprosencephaly-diagnosis; *Magnetic-Resonance-Imaging
CHECKTAGS: Case-Report; Female; Human
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 1997051981
UPDATE CODE: 199705