Tags

Type your tag names separated by a space and hit enter

[Brain abnormality within the scope of a VACTERL association].
Monatsschr Kinderheilkd. 1991 Jun; 139(6):360-2.MK

Abstract

We report the unusual finding of brain malformations in a male newborn with anomalies of VACTERL association. Magnetic resonance imaging revealed hypoplasia of cerebellum, pons and corpus callosum as well as kinking of diencephalon and mesencephalon. These malformations of ectodermal tissue are suggestive of a defect of morphogenesis that occurred earlier than usually postulated for VACTERL cases. They resulted in severe neurologic complications and an early death. The fact that a cousin of this patient has VACTERL anomalies without cerebral involvement indicates that variable expressivity in genetically predisposed individuals may be possible for this subgroup of VACTERL cases.

Authors+Show Affiliations

Abteilung Allgemeine Pädiatrie, Universitäts-Kinderklinik Kiel.No affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
English Abstract
Journal Article

Language

ger

PubMed ID

1896049

Citation

Nikischin, W, et al. "[Brain Abnormality Within the Scope of a VACTERL Association]." Monatsschrift Kinderheilkunde : Organ Der Deutschen Gesellschaft Fur Kinderheilkunde, vol. 139, no. 6, 1991, pp. 360-2.
Nikischin W, Krolikowski I, Santer R. [Brain abnormality within the scope of a VACTERL association]. Monatsschr Kinderheilkd. 1991;139(6):360-2.
Nikischin, W., Krolikowski, I., & Santer, R. (1991). [Brain abnormality within the scope of a VACTERL association]. Monatsschrift Kinderheilkunde : Organ Der Deutschen Gesellschaft Fur Kinderheilkunde, 139(6), 360-2.
Nikischin W, Krolikowski I, Santer R. [Brain Abnormality Within the Scope of a VACTERL Association]. Monatsschr Kinderheilkd. 1991;139(6):360-2. PubMed PMID: 1896049.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - [Brain abnormality within the scope of a VACTERL association]. AU - Nikischin,W, AU - Krolikowski,I, AU - Santer,R, PY - 1991/6/1/pubmed PY - 1991/6/1/medline PY - 1991/6/1/entrez SP - 360 EP - 2 JF - Monatsschrift Kinderheilkunde : Organ der Deutschen Gesellschaft fur Kinderheilkunde JO - Monatsschr Kinderheilkd VL - 139 IS - 6 N2 - We report the unusual finding of brain malformations in a male newborn with anomalies of VACTERL association. Magnetic resonance imaging revealed hypoplasia of cerebellum, pons and corpus callosum as well as kinking of diencephalon and mesencephalon. These malformations of ectodermal tissue are suggestive of a defect of morphogenesis that occurred earlier than usually postulated for VACTERL cases. They resulted in severe neurologic complications and an early death. The fact that a cousin of this patient has VACTERL anomalies without cerebral involvement indicates that variable expressivity in genetically predisposed individuals may be possible for this subgroup of VACTERL cases. SN - 0026-9298 UR - https://www.unboundmedicine.com/medline/citation/1896049/[Brain_abnormality_within_the_scope_of_a_VACTERL_association]_ L2 - http://www.diseaseinfosearch.org/result/7331 DB - PRIME DP - Unbound Medicine ER -