ABSTRACT
A síndrome de Schwartz Jampel (SSJ) é uma desordem autossômica recessiva, caracterizada clinicamente pela baixa estatura, aparência facial típica, múltiplas anormalidades esqueléticas e por uma atividade muscular contínua. Este artigo descreve os aspectos clínicos e radiográficos de um paciente portador dessa síndrome que apresentava, também, múltiplas unidades dentárias inclusas.
The Schwartz-Jampel syndrome (SJS) is an autosomal recessive disease clinically characterized by short stature, typical facial appearance, multiple skeletal abnormalities and a continuous muscular activity. This article describes the clinical and radiographic aspects of a syndromic patient, who also presented multiple impacted teeth.
Subject(s)
Osteochondrodysplasias , Genetic Phenomena , Tooth, UneruptedABSTRACT
Schwartz-Jampel syndrome is a rare autosomal recessive disorder characterized by clinical myotonia, persistent spontaneous activity, and skeletal dysplasia (short stature, pigeon breast, micrognathia etc.). We experienced an eleven- year-old girl complaining of gait disturbance and motor weakness of both legs. She was operated for umblical hernia at the age of two and for congenital hip dislocation at the age of six. She displayed short stature, short neck, microstomia, micrognathia, pigeon breast, and calf muscle hypertrophy. Her muscle strength was fair to good grade in both legs. Percussion- and exercise-induced myotonia was observed. Her cognitive function was below-average intelligence. Serum creatine kinase was elevated three to four times of normal level. Routine motor and sensory conduction studies were normal and continuous electrical myotonic discharges were detected in all examined muscles. Clinically, her symptom was non-progressive for three years.