Symptoma

Joubert Syndrome Type 10

Joubert Syndrome 10

RESULTS Table 2 presents a summary of the clinical findings. Parents of case 1 were first cousin; consanguinity was denied in the remaining families. In all patients, it was present hypotonia, ataxia and developmental delay of variable intensity. [scielo.br]

  • Developmental Delay

    In all patients, it was present hypotonia, ataxia and developmental delay of variable intensity. Mental retardation varied from profound to mild, and no respiratory abnormality was reported. [scielo.br]

  • Hyperpnea

    Respiratory abnormalities, as hyperpnea and apnea, one of primary diagnostic criteria1,2, were not seen in our series. [scielo.br]

  • Ataxia

    In all patients, it was present hypotonia, ataxia and developmental delay of variable intensity. Mental retardation varied from profound to mild, and no respiratory abnormality was reported. [scielo.br]

  • Nystagmus

    JS is characterized by congenital ataxia, hypotonia, developmental delay, and at least one of the following features: neonatal respiratory disturbances and abnormal eye movements, including nystagmus and oculomotor apraxia2. [scielo.br]

JS prognosis at an early age is difficult to be determined. Recognition of molar tooth sign at brain MRI is an essential cue for the diagnosis of JS. [scielo.br]