Abstract
Schwartz-Jampel syndrome is synonymous with chondrodystrophic myotonia, characterized by dwarfism, specific face with blepharophimosis, skeletal deformities and myotonia.
An eight-year seven month old girl who was diagnosed as having the Schwartz-Jampel syndrome visited the clinic of Pediatric Dentistry, Tokushima University Dental Hospital for a malocclusion.
The systemic findings were (1)short stature, (2)specific face with blepharophimosis and small mouth, (3)joint contractures of the hip, knee and elbow and limited joint movement, (4) walking difficulties, (5)normal intelligence and (6)as revealed in blood examinations, a slight low level of MCV and MCH, high level of CPK and LDH, and low level of IgA and IgG.
The oral findings were (1)malocculusion caused by the small upper and lower, especially upper, jaw and the normal size of the teeth, (2)no deficiency in the number of teeth, (3)a high arched palate, (4)no morphological abnormalities of the mandibular head and mandibular fossa and normal joint movement, (5)longer coronoid process than articular process and a somewhat large antegonial notch, (6)continuous muscle activity of the masseter and anterior part of the temporal muscles during rest and (7)unstable mastication rhythm.
