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

Medicine

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