The Schwartz Jampel syndrome (SJS), is an autosomal recessive disease, which is characterized by skeletal anomalies, myotonias and a different facial type (maskface).

Case 1 - CAVC, 4 years old, female, born in Curitiba-Pr, started the       attendance at 2 months with a history of prematurity. At 11 months presented dysmorphic facial features and a discrete delay on DNPM for chronological age. Progressed with difficulty in the use of hands, joint stiffness in wrists and muscle hypertrophy to age 3. Mother with joint stiffness in hands and fascies like daughter's face. Physical Exam: mouth half open, high-arched palate, flattened nasal bridge, short and webbed neck, adequate cognitive, slow eye movements, bilateral facial paresis, muscle hypertrophy, limitation of extension of the wrist bilaterally. Exams: Muscular biopsy and Electroneuromyography  compatible with Schwartz Jampel.

Case 2: LV, 34 years old (mother at case 1 - 09/11/1978). Did neurological follow from the first months of life by poor sucking, apnea episodes during feedings and muscle hypertrophy. Evolved with delay on DNPM. At 6 years old, reported cramps in the limbs and involuntary contractions of the proximal muscles. Progressed with restrictions in the use of hands bilaterally. Neurological Examination: preserved cognitive, ophthalmoparesis bilateral, bilateral paresis of the face, generalized hypertonia, myotonic phenomenon in hand and tongue, muscular hypertrophy, mainly proximal members and limited extension bilateral of the carpal. Exams: Muscular biopsy and Electroneuromyography  compatible with Schwartz Jampel