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Prenatal diagnosis of Schwartz–Jampel syndrome with early manifestation


Hunziker, Urs A; Savoldelli, Guido; Boltshauser, Eugen; Giedion, Andres; Schinzel, Albert (1989). Prenatal diagnosis of Schwartz–Jampel syndrome with early manifestation. Prenatal Diagnosis, 9(2):127-131.

Abstract

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.

Abstract

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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Additional indexing

Item Type:Journal Article, refereed, original work
Communities & Collections:04 Faculty of Medicine > Institute of Medical Genetics
Dewey Decimal Classification:570 Life sciences; biology
610 Medicine & health
Scopus Subject Areas:Health Sciences > Obstetrics and Gynecology
Health Sciences > Genetics (clinical)
Uncontrolled Keywords:Genetics (clinical), Obstetrics and Gynecology, Prenatal Diagnosis
Language:English
Date:1 February 1989
Deposited On:25 Oct 2023 06:54
Last Modified:30 May 2024 01:47
Publisher:Wiley-Blackwell Publishing, Inc.
ISSN:0197-3851
OA Status:Closed
Publisher DOI:https://doi.org/10.1002/pd.1970090208
PubMed ID:2646626
Other Identification Number:Corpus ID: 1800564
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