| First trimester ultrasound diagnosis of lethal multiple pterygium syndrome. | |
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MedLine Citation:
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PMID: 16912497 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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. |
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Authors:
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Munire Gundogan; Katherine Fong; Sarah Keating; Jacqueline Pierre-Louis; David Chitayat |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Fetal diagnosis and therapy Volume: 21 ISSN: 1015-3837 ISO Abbreviation: Fetal. Diagn. Ther. Publication Date: 2006 |
Date Detail:
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Created Date: 2006-08-16 Completed Date: 2006-09-28 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 9107463 Medline TA: Fetal Diagn Ther Country: Switzerland |
Other Details:
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Languages: eng Pagination: 466-70 Citation Subset: IM |
Copyright Information:
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2006 S. Karger AG, Basel |
Affiliation:
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Department of Medical Imaging, Mount Sinai Hospital, Toronto, Ontario, Canada. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adult Contracture / ultrasonography* Female Fetal Death / etiology Fetal Movement Humans Joints / abnormalities* Nuchal Translucency Measurement Pregnancy Pregnancy Trimester, First Pterygium Syndrome Ultrasonography, Prenatal* |
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