| Walker-Warburg syndrome diagnosed by findings of typical ocular abnormalities on prenatal ultrasound. | |
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MedLine Citation:
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PMID: 22002842 Owner: NLM Status: Publisher |
Abstract/OtherAbstract:
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Walker-Warburg syndrome (WWS) is a rare, lethal autosomal recessive disorder characterized by congenital muscular dystrophy and brain and eye anomalies. A prenatal finding of hydrocephalus associated with posterior fossa anomalies and/or encephalocele is nonspecific, whereas additional ocular anomalies are typical for WWS. We report a fetus of consanguineous parents found to have encephalocele at US in week 15 of gestation. The parents did not wish to terminate the pregnancy. Follow-up US revealed bilateral abnormal ocular echoic structures suggesting a major form of persistent primary vitreous. WWS was suspected. The POMT2 mutation confirmed this diagnosis. In hydrocephalus associated with posterior fossa anomalies and/or encephalocele, we recommend detailed US examination of the fetal eyes. Ocular anomalies in this context strongly suggest WWS. |
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Authors:
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M Brasseur-Daudruy; P H Vivier; V Ickowicz; D Eurin; E Verspyck |
Publication Detail:
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Type: JOURNAL ARTICLE Date: 2011-10-15 |
Journal Detail:
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Title: Pediatric radiology Volume: - ISSN: 1432-1998 ISO Abbreviation: - Publication Date: 2011 Oct |
Date Detail:
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Created Date: 2011-10-17 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 0365332 Medline TA: Pediatr Radiol Country: - |
Other Details:
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Languages: ENG Pagination: - Citation Subset: - |
Affiliation:
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Department of Pediatric and Fetal Imaging, Rouen University Hospital, Rouen, France, marie.brasseur-daudruy@chu-rouen.fr. |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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