| Prenatal sonographic diagnosis of ellis-van creveld syndrome. | |
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MedLine Citation:
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PMID: 10602104 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Ellis-van Creveld syndrome (chondroectodermal dysplasia) is a rare autosomal recessive disorder characterized by a narrow thorax with short ribs, short extremities with polydactyly, and heart defects. A woman underwent sonographic examination at 27 weeks' menstrual age to rule out anomalies because of premature labor. Sonography revealed a live fetus with short long bones, polydactyly in the hands and feet, a narrow thorax with short ribs, and an atrial septal defect. All bony structures were of normal hyperechogenicity. The placenta appeared normal and was located at the posterior uterine wall; the amniotic fluid volume was also normal. These findings led to the diagnosis of short-rib dysplasia, most likely Ellis-van Creveld syndrome. The preterm labor stopped but spontaneously recurred at 35 weeks, when a 2,320-g female infant was vaginally delivered. The infant died of pulmonary insufficiency shortly after birth. Postmortem examination confirmed the prenatal findings. We conclude that Ellis-van Creveld syndrome can be readily diagnosed by prenatal sonography in the third trimester. |
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Authors:
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T Tongsong; P Chanprapaph |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Journal of clinical ultrasound : JCU Volume: 28 ISSN: 0091-2751 ISO Abbreviation: J Clin Ultrasound Publication Date: 2000 Jan |
Date Detail:
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Created Date: 2000-02-08 Completed Date: 2000-02-08 Revised Date: 2004-11-17 |
Medline Journal Info:
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Nlm Unique ID: 0401663 Medline TA: J Clin Ultrasound Country: UNITED STATES |
Other Details:
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Languages: eng Pagination: 38-41 Citation Subset: IM |
Copyright Information:
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Copyright 2000 John Wiley & Sons, Inc. |
Affiliation:
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Department of Obstetrics and Gynecology, Faculty of Medicine, Chiang Mai University, Chiang Mai 50200, Thailand. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adult Autopsy Ellis-Van Creveld Syndrome / ultrasonography* Fatal Outcome Female Humans Pregnancy Pregnancy Outcome* Pregnancy Trimester, Second Ultrasonography, Prenatal / methods* |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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