| Prenatal diagnosis of MPPH syndrome. | |
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MedLine Citation:
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PMID: 23348821 Owner: NLM Status: Publisher |
Abstract/OtherAbstract:
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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. |
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Authors:
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Bart De Keersmaecker; Hilde Van Esch; Dominique Van Schoubroeck; Filip Claus; Philippe Moerman; Luc De Catte |
Publication Detail:
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Type: JOURNAL ARTICLE Date: 2013-1-24 |
Journal Detail:
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Title: Prenatal diagnosis Volume: - ISSN: 1097-0223 ISO Abbreviation: Prenat. Diagn. Publication Date: 2013 Jan |
Date Detail:
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Created Date: 2013-1-25 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 8106540 Medline TA: Prenat Diagn Country: - |
Other Details:
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Languages: ENG Pagination: - Citation Subset: - |
Copyright Information:
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© 2013 John Wiley & Sons, Ltd. |
Affiliation:
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Department of Obstetrics and Gynecology, University Hospitals, Leuven, Belgium. |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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