| Rare manifestations of Neu-laxova syndrome. | |
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MedLine Citation:
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PMID: 22233503 Owner: NLM Status: In-Data-Review |
Abstract/OtherAbstract:
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Neu-Laxova syndrome is a rare lethal congenital disorder involving multiple systems. Intrauterine growth retardation, ichthyosis, microcephaly, abnormal facial findings and limb contractures are its key features. We present a stillborn female baby of 1.5 kg with characteristic features including growth retardation, microcephaly, severe ectropion, micrognathia, flattened nose, eclabion, large ears, puffy hands and feet. In addition to these features, lissencephaly, severely hypoplastic cerebrum and corpus callossum, Dandy-Walker malformation, Transposition of Great Vessels and hepatomegaly were noted at autopsy. The patient was born at 38 weeks of gestation to consanguineous (second degree) Indian parents. The mother was 26 year old second gravida with lack of prenatal followup. Therefore, the condition was diagnosed postnatally. Because of the autosomal recessive inheritence of Neu-Laxova syndrome, in countries with high rates of consanguineous marriage, serial prenatal ultrasound examinations with genetic counseling should be performed on pregnant women at high risk to offer termination of affected pregnancies. |
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Authors:
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Meenakshi Badakali; Ashok Badakali; Vijay Dombale |
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Publication Detail:
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Type: Journal Article |
Journal Detail:
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Title: Fetal and pediatric pathology Volume: 31 ISSN: 1551-3823 ISO Abbreviation: Fetal Pediatr Pathol Publication Date: 2012 Feb |
Date Detail:
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Created Date: 2012-01-11 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 101230972 Medline TA: Fetal Pediatr Pathol Country: England |
Other Details:
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Languages: eng Pagination: 1-5 Citation Subset: IM |
Affiliation:
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Department of Obstetrics and Gynecology, S.N. Medical College and Research Centre, Bagalkot, India. |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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