2016, Number 1
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Arch Inv Mat Inf 2016; 8 (1)
Oral manifestations and stomatological management of a Schwartz-Jampel syndrome patient. A clinical case report
Téllez COA, Gasca AG, Soto QA
Language: Spanish
References: 16
Page: 18-22
PDF size: 153.31 Kb.
ABSTRACT
The Schwartz-Jampel syndrome is a rare autosomal recessive disorder, as only 129 cases have been reported worldwide and affects less than one person in 10 million. The disease is inherited in an autosomal recessive pattern with the risk of a higher incidence in children of consanguineous parents. This syndrome is characterized by generalized rigidity and myotonia, plus demonstrations as short stature, and skeletal abnormalities blepharophimosis; taking some oral such as micrognathia, microstomia, mandibular hypoplasia and other dental findings. It is also called myotonic chondrodystrophy.
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