Schwartz-Jampel syndrome: a case report

ABSTRACT

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