ArticleCureus2022
Neonatal Joubert Syndrome With Renal Involvement and Respiratory Distress.
Article in Cureus, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
1 citing paper in PubMed, 2 citations in OpenAlex.
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Joubert syndrome (JS) is a rare autosomal recessive neurodevelopmental disorder with characteristic clinical presentation of hyperpnea-apnea spells, hypotonia, dysmorphic facies, and nystagmus and imaging features of molar tooth sign and cerebellar vermian hypoplasia-dysplasia. Early diagnosis is needed for timely management and favorable outcome. We present a case of neonatal JS with renal involvement presenting with respiratory distress and highlight the characteristic clinical and imaging findings. On examination, the baby had low set ears, a large protruding tongue, hypertelorism, and a depressed nasal bridge. Ultrasonography (USG) abdomen showed echogenic kidneys with cortical and medullary cysts. Magnetic Resonance Imaging (MRI) brain showed classical molar tooth sign, vermian hypoplasia-dysplasia, and thinning of the corpus callosum.
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Registered trials
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