Schwartz-jampel syndrome : a case report
Joint Authors
Madanat, Ayman Sami
Mustafa, Thabit Ali Abd Allah
Source
Journal of the Royal Medical Services
Issue
Vol. 14, Issue 2 (31 Aug. 2007), pp.56-59, 4 p.
Publisher
The Royal Medical Services Jordan Armed Forces
Publication Date
2007-08-31
Country of Publication
Jordan
No. of Pages
4
Main Subjects
Topics
Abstract EN
Schwartz-Jampel syndrome is a rare autosomal recessive disorder in which the patient had short stature, myotonia with paucity of facial expression, blepharophimosis, pectus carinatum, and contractures.
It is a muscle-joint anomaly with prominent facial characteristics and ocular defects.
There is a typical facial appearance due to myotonia of the muscles of expression; the skin appears to be pursed and stretched tightly over the face and mouth.
Joint limitations are part of the syndrome.
The face appears somewhat expressionless, and the few patients who have been identified to have a remarkably consistent appearance.
Blepharophimosis is a consistent feature.
We report the occurrence of the classic Schwartz-Jampel syndrome in two boys of two consanguineous families in Jordan with bilateral congenital nasolacrimal duct obstruction in one of them.
Their main facial manifestations are highlighted.
American Psychological Association (APA)
Mustafa, Thabit Ali Abd Allah& Madanat, Ayman Sami. 2007. Schwartz-jampel syndrome : a case report. Journal of the Royal Medical Services،Vol. 14, no. 2, pp.56-59.
https://search.emarefa.net/detail/BIM-128160
Modern Language Association (MLA)
Mustafa, Thabit Ali Abd Allah& Madanat, Ayman Sami. Schwartz-jampel syndrome : a case report. Journal of the Royal Medical Services Vol. 14, no. 2 (Aug. 2007), pp.56-59.
https://search.emarefa.net/detail/BIM-128160
American Medical Association (AMA)
Mustafa, Thabit Ali Abd Allah& Madanat, Ayman Sami. Schwartz-jampel syndrome : a case report. Journal of the Royal Medical Services. 2007. Vol. 14, no. 2, pp.56-59.
https://search.emarefa.net/detail/BIM-128160
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references : p. 58-59
Record ID
BIM-128160