| Prenatal diagnosis of Schwartz-Jampel syndrome with early manifestation. | |
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MedLine Citation:
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PMID: 2646626 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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A mother who had given birth to a child with Schwartz-Jampel syndrome (SJS) with neonatal manifestations (myotonia, congenital contractures, bowing of femora and tibiae) underwent ultrasonic fetal examination during the 17th and 19th week of her second pregnancy. Moderately decreased fetal motor activity and constant flexion of the fingers were observed at both examinations. In addition, there was mild bowing and shortening of the femora. At birth, the child presented with the characteristic pattern of SJS similar to her older brother. Prenatal ultrasonic diagnosis of Schwartz-Jampel syndrome is possible, at least for the form with neonatal onset of myotonia and contractures. |
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Authors:
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U A Hunziker; G Savoldelli; E Boltshauser; A Giedion; A Schinzel |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Prenatal diagnosis Volume: 9 ISSN: 0197-3851 ISO Abbreviation: Prenat. Diagn. Publication Date: 1989 Feb |
Date Detail:
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Created Date: 1989-04-20 Completed Date: 1989-04-20 Revised Date: 2004-11-17 |
Medline Journal Info:
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Nlm Unique ID: 8106540 Medline TA: Prenat Diagn Country: ENGLAND |
Other Details:
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Languages: eng Pagination: 127-31 Citation Subset: IM |
Affiliation:
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Department of Pediatrics, University of Zürich, Switzerland. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adult Female Fetal Movement Humans Infant, Newborn Male Osteochondrodysplasias / diagnosis*, genetics Pregnancy Prenatal Diagnosis* Ultrasonography* |
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