Document Detail


First trimester ultrasound diagnosis of lethal multiple pterygium syndrome.
MedLine Citation:
PMID:  16912497     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
OBJECTIVE: Diagnosis of lethal multiple pterygium syndrome in the first trimester of pregnancy. METHODS: A 38-year-old woman attended our ultrasound (US) clinic at 11.2 weeks gestation. She has had two previous stillbirths affected by lethal multiple pterygium syndrome. Transabdominal and transvaginal US were performed and identified a recurrence. Autopsy findings are compared to the fetal US findings. RESULTS: Fetal US showed a markedly increased nuchal translucency, fixed flexion deformities of the elbows and knees bilaterally, cutaneous webs across both elbow joints and absent fetal movements. The patient decided to terminate the pregnancy and a D&C was performed. Pathology of intact fetal parts showed flexion deformity of the right elbow with a cutaneous web, and ulnar deviation of the right wrist. CONCLUSION: Increased nuchal translucency, absent limb movements, multiple joint contractures and cutaneous webs on US allowed the diagnosis of lethal multiple pterygium syndromes in the first trimester of pregnancy.
Authors:
Munire Gundogan; Katherine Fong; Sarah Keating; Jacqueline Pierre-Louis; David Chitayat
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Fetal diagnosis and therapy     Volume:  21     ISSN:  1015-3837     ISO Abbreviation:  Fetal. Diagn. Ther.     Publication Date:  2006  
Date Detail:
Created Date:  2006-08-16     Completed Date:  2006-09-28     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9107463     Medline TA:  Fetal Diagn Ther     Country:  Switzerland    
Other Details:
Languages:  eng     Pagination:  466-70     Citation Subset:  IM    
Copyright Information:
2006 S. Karger AG, Basel
Affiliation:
Department of Medical Imaging, Mount Sinai Hospital, Toronto, Ontario, Canada.
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MeSH Terms
Descriptor/Qualifier:
Adult
Contracture / ultrasonography*
Female
Fetal Death / etiology
Fetal Movement
Humans
Joints / abnormalities*
Nuchal Translucency Measurement
Pregnancy
Pregnancy Trimester, First
Pterygium
Syndrome
Ultrasonography, Prenatal*

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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