| Neu-Laxova syndrome: a prenatal diagnosis. | |
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MedLine Citation:
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PMID: 22268252 Owner: NLM Status: In-Process |
Abstract/OtherAbstract:
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Neu-Laxova syndrome is a rare autosomal recessive congenital disorder. Prenatal diagnosis is possible via second trimester ultrasonography. Characteristic ultrasound findings include hydramnios, severe intrauterine growth restriction, craniofacial and CNS anomalies, limb contractures, skin lymphedema, skin restrictions, and akinesia. Fewer than 70 cases have been reported, and no survival beyond six months of age is known with most neonatal deaths occurring within the first few days of life. Overall, this is a lethal condition after birth secondary to severe lung hypoplasia and brain anomalies. Herein we report a recent case from our institution with prenatal diagnosis. |
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Authors:
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Pushpinder Dhillon; James A Bofill |
Publication Detail:
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Type: Journal Article |
Journal Detail:
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Title: Journal of the Mississippi State Medical Association Volume: 52 ISSN: 0026-6396 ISO Abbreviation: J Miss State Med Assoc Publication Date: 2011 Oct |
Date Detail:
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Created Date: 2012-01-24 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 7505622 Medline TA: J Miss State Med Assoc Country: United States |
Other Details:
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Languages: eng Pagination: 307-9 Citation Subset: IM |
Affiliation:
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Division of Maternal Fetal Medicine, Department of Obstetrics and Gynecology, University of Mississippi Medical Center, Jackson. 39216, USA. |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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