Coincidence of semilobar holoprosencephaly and Chiari II malformation: correlation of prenatal diagnostics and neuropathologic findings

Mittelbronn, Michel; Beschorner, Rudi; Capper, David; Haist, Markus; Meyermann, Richard; Meyer-Wittkopf, Matthias (2006). Coincidence of semilobar holoprosencephaly and Chiari II malformation: correlation of prenatal diagnostics and neuropathologic findings. Journal of child neurology, 21(5), pp. 426-9. Hamilton, Ontario: Decker 10.2310/7010.2006.00125

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As holoprosencephaly and Chiari II malformation differ considerably, both in pathogenesis and in phenotypic localization, the coincidence of both entities is extremely rare. The case presented is, to our knowledge, the first published report comprising a combination of a semilobar holoprosencephaly associated with a Chiari II malformation and a myelomeningocele diagnosed prenatally and confirmed by postmortem neuropathologic evaluation. These findings indicate that in the case of pre- and postnatal detection of a myelomeningocele and/or Chiari II malformation, possible additional intracranial malformation, such as a semilobar holoprosencephaly, should also be taken into account and vice versa.

Item Type:	Journal Article (Further Contribution)
Division/Institute:	04 Faculty of Medicine > Department of Gynaecology, Paediatrics and Endocrinology (DFKE) > Clinic of Gynaecology
UniBE Contributor:	Meyer-Wittkopf, Matthias
ISSN:	0883-0738
ISBN:	16901451
Publisher:	Decker
Language:	English
Submitter:	Factscience Import
Date Deposited:	04 Oct 2013 14:52
Last Modified:	05 Dec 2022 14:16
Publisher DOI:	10.2310/7010.2006.00125
PubMed ID:	16901451
Web of Science ID:	000239469300012
URI:	https://boris.unibe.ch/id/eprint/21860 (FactScience: 16449)