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Stuve-Wiedemann syndrome: a skeletal dysplasia characterized by bowed long bones.
MedLine Citation:
PMID:  21337444     Owner:  NLM     Status:  Publisher    
Abstract/OtherAbstract:
OBJECTIVE: To describe the prenatal sonographic features of Stuve-Wiedemann syndrome (SWS). METHODS: A retrospective review of all cases of confirmed SWS during an eight years period was conducted. Clinical and historical data and outcome of the pregnancies were noted. Fetal biometry, skeletal survey, amniotic fluid volume and associated anomalies were recorded. A sonographic algorithm is proposed to distinguish SWS from other bent bone disorders. RESULTS: In total, there were ten cases. Six were diagnosed prenatally. The main prenatal features of SWS were mild to moderate micromelia, bowing of the lower limb bones, affecting the tibia more than the femur. There was relative sparing of fibula, upper limb bones with normal scapulae and clavicles. Camptodactyly was the main associated anomaly. All fetuses developed growth restriction in the late second trimester with oligohydramnios in half of the cases. These features could appear late in pregnancy. Although the thoracic dimensions were normal in majority of fetuses, respiratory insufficiency, due to myotonia, was a leading cause for mortality. CONCLUSION: The prenatal diagnosis of SWS is possible. SWS is associated with a high mortality during the first year of life. However, those who survive have high morbidity. Copyright © 2011 ISUOG. Published by John Wiley & Sons, Ltd.
Authors:
M A Begam; W Alsafi; G N Bekdache; F Chedid; L Al-Gazali; H M Mirghani
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Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2011-2-17
Journal Detail:
Title:  Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology     Volume:  -     ISSN:  1469-0705     ISO Abbreviation:  -     Publication Date:  2011 Feb 
Date Detail:
Created Date:  2011-2-21     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9108340     Medline TA:  Ultrasound Obstet Gynecol     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Copyright Information:
Copyright © 2011 ISUOG. Published by John Wiley & Sons, Ltd.
Affiliation:
OBYGN/Fetal Medicine Unit, Tawam Hospital, Al Ain, Abu Dhabi.
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