Cranial sonographic findings in Joubert's syndrome

Talabani, Joanne A. Al; Shubbar, Adil I.; Sobkey, Ezat

doi:10.1002/(sici)1097-0096(199901)27:1<41::aid-jcu7>3.0.co;2-s

Cited by 5 publications

(2 citation statements)

References 8 publications

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“…Prenatal diagnosis of JS has been documented by others [10,12], and the ultrasonographic findings showed increased nuchal translucency.…”

Section: Discussionmentioning

confidence: 77%

Joubert Syndrome: A Rare Case Report From Saudi Arabia

ALHarbi

2017

J Med Cases

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Joubert syndrome (JS) is a rare genetic disorder. We report a 15-month-old girl who presented with developmental delay, decrease vision, failure to thrive and history of two hospital admissions with respiratory distress and recurrent aspiration pneumonia due to gastroesophageal reflux disease. On examination, she had facial dysmorphism, nystagmus, retinopathy and hypotonia. Brain magnetic resonance imaging revealed cerebellar vermis hypoplasia, abnormally thick superior cerebellar peduncles, a "batwing" configuration of the fourth ventricle, and the characteristic molar tooth sign of mid-brain suggestive of JS. Patient was referred to the genetic department outside our hospital where the diagnosis of JS was confirmed. In conclusion, awareness of the characteristic clinical and radiological findings in JS will help in early diagnosis, appropriate counseling and proper rehabilitation.

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“…Prenatal diagnosis of JS has been documented by others [10,12], and the ultrasonographic findings showed increased nuchal translucency.…”

Section: Discussionmentioning

confidence: 77%

Joubert Syndrome: A Rare Case Report From Saudi Arabia

ALHarbi

2017

J Med Cases

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“…The prevalence of multicystic renal disease and lower survival rate are more observed among patients with retinal dystrophy in patients with JS. 17 Prenatal diagnosis of JS has been documented by others 14,18 and the ultrasonographic findings showed increased nuchal translucency. The prognosis of JS cases is not bad, if discovered and managed early through implementing an intervention program for patients including special education, occupational, physical and speech therapy.…”

Section: Discussionmentioning

confidence: 90%

Joubert Syndrome: Reports of Two Cases

Kundu

Paul²,

Poddar³

2021

J. Bangladesh Coll. Phys.

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Joubert syndrome related disorder(JSRD) is an autosomal recessive disorder characterized by hypotonia, abnormal eye movement,ataxia and breathing disturbance. The hall mark of the disease isthe presence of molar tooth malformationin magnetic resonance imaging (MRI) of brain. Diagnosis ofJSRD is based on clinical and neuro-radiological findings. Early and accurate diagnosis can help in planning the early intervention measures to reduce morbidity. Here, we report two cases. The first case, a 15 month old female baby, presented with hypotonia, polydactyly and seizure with molar tooth sign (MTS) in the MRI of brain.The second case, a three and a half-year-old child presented with developmental delay, hypotonia, abnormal eye movement, seizure and classical MTS in MRI of brain. J Bangladesh Coll Phys Surg 2021; 39(2): 132-136

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