Presentation
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]
Respiratoric
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Hyperpnea
Respiratory abnormalities, as hyperpnea and apnea, one of primary diagnostic criteria1,2, were not seen in our series. [scielo.br]
Neurologic
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Apraxia
RESUMO A síndrome de Joubert (SJ) é uma doença hereditária, autossômica recessiva, caracterizada por hipotonia, hipoplasia do vermis cerebelar, anormalidades oculares (p.ex., retinite pigmentar, apraxia oculomotora e nistagmo), cistos renais e fibrose [scielo.br]
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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]
Prognosis
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]