Title: Prenatal diagnosis of MPPH syndrome
Authors: De Keersmaecker, Bart ×
Van Esch, Hilde
Van Schoubroeck, Dominique
Claus, Filip
Moerman, Philippe
De Catte, Luc #
Issue Date: Mar-2013
Publisher: John Wiley & Sons
Series Title: Prenatal diagnosis vol:33 issue:3 pages:292-5
Article number: 10.1002/pd.4039
Abstract: We report the prenatal sonographic detection of a fetus with megalencephaly, polymicrogyria, postaxial polydactyly and hydrocephaly. Only 14 patients have been reported in the literature so far, all but one were diagnosed postnatally. The polymicrogyria in the frontoparietal lobe was confirmed by prenatal magnetic resonance imaging. Additionally, a hypoplastic thymus as seen in a 22q11 deletion was present. Although polymicrogyria along with pre-axial polydactyly has been described in 22q11 deletion, the diagnosis of Di George syndrome was ruled out. The etiology of megalencephaly, polymicrogyria, postaxial polydactyly and hydrocephaly has not been revealed yet. A dominant as well as recessive inheritance has been suggested. © 2013 John Wiley & Sons, Ltd.
ISSN: 0197-3851
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Department of Human Genetics - miscellaneous
× corresponding author
# (joint) last author

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