Document Detail

Second-trimester sonographic diagnosis of diastrophic dysplasia: report of 2 index cases.
MedLine Citation:
PMID:  12901408     Owner:  NLM     Status:  MEDLINE    
OBJECTIVE: To describe the sonographic features of diastrophic dysplasia in 2 second-trimester index offspring. METHODS: Real-time sonography was performed on 2 second-trimester fetuses with no risk factors for skeletal dysplasia. RESULTS: Each fetus had severe bilateral upper and lower extremity long bone shortening, hitchhiker thumbs and great toes, and clubbed feet, indicating a diagnosis of diastrophic dysplasia. CONCLUSIONS: Index cases of diastrophic dysplasia may be correctly diagnosed on the basis of second-trimester sonography.
Joseph R Wax; Molly Carpenter; Wendy Smith; Charles Grimes; Michael G Pinette; Jacquelyn Blackstone; Angelina Cartin
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Journal of ultrasound in medicine : official journal of the American Institute of Ultrasound in Medicine     Volume:  22     ISSN:  0278-4297     ISO Abbreviation:  J Ultrasound Med     Publication Date:  2003 Aug 
Date Detail:
Created Date:  2003-08-06     Completed Date:  2003-11-12     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  8211547     Medline TA:  J Ultrasound Med     Country:  United States    
Other Details:
Languages:  eng     Pagination:  805-8     Citation Subset:  IM    
Division of Maternal-Fetal Medicine, Department of Obstetrics and Gynecology, Maine Medical Center, Portland, Maine, USA.
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MeSH Terms
Bone Diseases, Developmental / ultrasonography*
Fetal Diseases / ultrasonography*
Pregnancy Trimester, Second
Ultrasonography, Prenatal*

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