Document Detail

Prenatal sonographic diagnosis of ellis-van creveld syndrome.
MedLine Citation:
PMID:  10602104     Owner:  NLM     Status:  MEDLINE    
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.
T Tongsong; P Chanprapaph
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Journal of clinical ultrasound : JCU     Volume:  28     ISSN:  0091-2751     ISO Abbreviation:  J Clin Ultrasound     Publication Date:  2000 Jan 
Date Detail:
Created Date:  2000-02-08     Completed Date:  2000-02-08     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  0401663     Medline TA:  J Clin Ultrasound     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  38-41     Citation Subset:  IM    
Copyright Information:
Copyright 2000 John Wiley & Sons, Inc.
Department of Obstetrics and Gynecology, Faculty of Medicine, Chiang Mai University, Chiang Mai 50200, Thailand.
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MeSH Terms
Ellis-Van Creveld Syndrome / ultrasonography*
Fatal Outcome
Pregnancy Outcome*
Pregnancy Trimester, Second
Ultrasonography, Prenatal / methods*

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