Craniovertebral junction abnormality in a case of Joubert syndrome

Vogel, Timothy W.; Dlouhy, Brian J.; Menezes, Arnold H.

doi:10.1007/s00381-012-1682-3

Cited by 4 publications

(4 citation statements)

References 21 publications

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“…To date, only 22 patients with JBTS and hydrocephalus have been described: nine with postnatal onset, six diagnosed at birth, and seven diagnosed prenatally. [13][14][15][16][17][18][19][20][21][22]24 An additional 36 patients with ventriculomegaly have been documented in the literature. 15,16,25,26 A review of the patients with JBTS and enlarged ventricles is presented in Table 1.…”

Section: Discussionmentioning

confidence: 99%

“…A ventricular-peritoneal shunt was inserted in nine patients. [13][14][15][16][20][21][22] Two died, both soon after birth: one due to congenital heart disease and hydrocephalus complications, and the other from purulent meningitis at the age of 6 weeks. 19,22 JBTS is a ciliopathy.…”

Section: Discussionmentioning

confidence: 99%

“…Hydrocephalus is mentioned in a few case reports, [13][14][15][16][17][18][19][20][21][22] but only three have described prenatal diagnosis. In this study we present seven patients with JBTS who developed hydrocephalus in utero.…”

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confidence: 99%

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Hydrocephalus associated with a molar tooth sign: A distinct subtype of Joubert syndrome

Gafner,

Haddad,

Gupta

et al. 2024

Develop Med Child Neuro

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Hydrocephalus is rarely described in Joubert‐Boltshauser syndrome (JBTS). The aim of this study was to investigate whether this association is a chance occurrence or potentially signifies a new phenotypic subtype. The databases of Wolfson Medical Center, Sourasky Medical Center, and EB's personal collection were reviewed. Records from an additional family were obtained from RG. The patients' medical records, prenatal ultrasounds, and magnetic resonance imaging were assessed. In addition, we reviewed the medical literature for the association of ventriculomegaly/hydrocephalus (VM/HC) in JBTS. Only seven cases (from five families) were found with prenatal onset of VM/HC, diagnosed during the second trimester; three pregnancies were terminated, one was stillborn and three were born, of which one died within a week, and another died at the age of 6 years. Additional central nervous system findings included dysgenesis of the corpus callosum, delayed sulcation, polymicrogyria, and pachygyria. We found 16 publications describing 54 patients with JBTS and VM/HC: only five were diagnosed at birth and three were diagnosed prenatally. Hydrocephalus is extremely rare in JBTS. The recurrence of this association, reported in several publications in multiple family members, suggests that it might represent a new phenotypic subtype of JBTS possibly associated with specific genes or variants. Further genetic studies are needed to confirm this hypothesis.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

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Hydrocephalus associated with a molar tooth sign: A distinct subtype of Joubert syndrome

Gafner,

Haddad,

Gupta

et al. 2024

Develop Med Child Neuro

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“…49,57 Presence of a molar-tooth sign-a widened interpeduncular fossa, thickened superior cerebellar peduncles, and vermian hypoplasia-on MR images is pathognomonic for JBTS. 70 In addition to these CNS-related phenotypes, JBTS patients may present with NTDs, including occipital encephaloceles. 33,69 The genes associated with JBTS localize to the cilium and the basal body.…”

Section: Joubert Syndromementioning

confidence: 99%

The role of primary cilia in the pathophysiology of neural tube defects

Vogel

Carter²,

Abode-Iyamah

et al. 2012

FOC

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Neural tube defects (NTDs) are a set of disorders that occur from perturbation of normal neural development. They occur in open or closed forms anywhere along the craniospinal axis and often result from a complex interaction between environmental and genetic factors. One burgeoning area of genetics research is the effect of cilia signaling on the developing neural tube and how the disruption of primary cilia leads to the development of NTDs. Recent progress has implicated the hedgehog (Hh), wingless-type integration site family (Wnt), and planar cell polarity (PCP) pathways in primary cilia as involved in normal neural tube patterning. A set of disorders involving cilia function, known as ciliopathies, offers insight into abnormal neural development. In this article, the authors discuss the common ciliopathies, such as Meckel-Gruber and Joubert syndromes, that are associated with NTDs, and review cilia-related signaling cascades responsible for mammalian neural tube development. Understanding the contribution of cilia in the formation of NTDs may provide greater insight into this common set of pediatric neurological disorders.

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Joubert Syndrome

2016

Diagnostic Imaging: Obstetrics

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Craniovertebral junction abnormality in a case of Joubert syndrome

Cited by 4 publications

References 21 publications

Hydrocephalus associated with a molar tooth sign: A distinct subtype of Joubert syndrome

Hydrocephalus associated with a molar tooth sign: A distinct subtype of Joubert syndrome

The role of primary cilia in the pathophysiology of neural tube defects

Joubert Syndrome

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