| Prenatal diagnosis of Jarcho-Levin syndrome in combination with inguinoscrotal hernia. | |
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MedLine Citation:
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PMID: 19634089 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Jarcho-Levin syndrome is characterized by short trunk dwarfism associated with rib and vertebral anomalies. The syndrome encompasses a group of disorders with phenotypic and inheritance variations. Here we report a prenatally diagnosed patient with spondylocostal dysostosis (SCD) with accompanying congenital inguinoscrotal hernia. A 28-year-old pregnant women, gravida 4, para 3, was referred to our clinic with a diagnosis of wedging of fetal thoracal vertebra and kyphoscoliosis at 28 weeks of gestation. Upon evaluation, fetal vertebral wedging and kyphoscoliosis were confirmed with the addition of thoracic circumference below 3rd percentile, short thorax length, and mild pyelectasis. During follow-up, in utero inguinoscrotal hernia developed. Prenatal diagnosis of SCD is important to provide appropriate genetic counseling and to have an adequate setting for the delivery of the fetus. |
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Authors:
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Ahmet Basaran; Ozg?r Deren; L?tf? S Ondero?lu |
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Publication Detail:
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Type: Case Reports; Journal Article Date: 2009-07-24 |
Journal Detail:
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Title: American journal of perinatology Volume: 27 ISSN: 1098-8785 ISO Abbreviation: Am J Perinatol Publication Date: 2010 Mar |
Date Detail:
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Created Date: 2010-02-22 Completed Date: 2010-05-20 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 8405212 Medline TA: Am J Perinatol Country: United States |
Other Details:
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Languages: eng Pagination: 189-92 Citation Subset: IM |
Copyright Information:
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Thieme Medical Publishers. |
Affiliation:
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Department of Obstetrics and Gynecology, Kulu State Hospital, Kula/Konya, Turkey. dr_ahmetbasaran@yahoo.com |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Abnormalities, Multiple
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ultrasonography* Adult Dwarfism / ultrasonography Female Fetal Diseases / ultrasonography* Hernia, Inguinal / ultrasonography* Humans Kyphosis / ultrasonography* Pregnancy Ribs / abnormalities, ultrasonography Spine / abnormalities, ultrasonography* Syndrome Ultrasonography, Prenatal / methods* |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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