Discovering rare diseases: Schwartz Jampell disease

Spec Care Dentist. 2012 Jun;32(3):105-11. doi: 10.1111/j.1754-4505.2012.00249.x. Epub 2012 Apr 26.

Schwartz-Jampel syndrome: a review of the literature and case report.

Mallineni SK, Yiu CK, King NM.

Source

Faculty of Dentistry, University of Hong Kong, Hong Kong SAR, China.

Abstract

Schwartz-Jampel syndrome (SJS) is a rare autosomal recessive skeletal dysplasia associated with myotonia. The manifestations of SJS include short stature, blepharophimosis, and skeletal anomalies. The combination of skeletal and muscular abnormalities may result in oro-dental manifestations such as atypical facies, with micrognathia, microstomia, pursed lips, crossbite, cleft palate, as well as mandibular hypoplasia, the risk of dentigerous cysts, and impacted teeth. The use of general anesthesia in patients with SJS is dangerous, as there is a risk of malignant hyperthermia. The purpose of this paper is to describe a 3-year-old Chinese boy diagnosed with SJS at birth. His intra-oral examination revealed significant dental findings such as dentin defects with generalized attrition and hypodontia of the permanent dentition. Comprehensive dental treatment was provided at the same time as lower right limb surgery to reduce the potential complications with general anesthesia.