Joubert syndrome with bilateral polymicrogyria: Clinical and neuropathological findings in two brothers

Joubert syndrome (JS) is characterized by hypotonia, ataxia, developmental delay, and a typical neuroimaging finding, the so‐called “molar tooth sign” (MTS). The association of MTS and polymicrogyria (PMG) has been reported as a distinct JS‐related disorder (JSRD). So far, five patients have been re...

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Bibliographic Details
Published in:American journal of medical genetics. Part A 2009-07, Vol.149A (7), p.1511-1515
Main Authors: Giordano, L., Vignoli, A., Pinelli, L., Brancati, F., Accorsi, P., Faravelli, F., Gasparotti, R., Granata, T., Giaccone, G., Inverardi, F., Frassoni, C., Dallapiccola, B., Valente, E.M., Spreafico, R.
Format: Article
Language:English
Subjects:
Abnormalities, Multiple - diagnosis
Abnormalities, Multiple - genetics
Abnormalities, Multiple - pathology
Abortion, Eugenic
Biological and medical sciences
Child
DNA Mutational Analysis
epilepsy
Female
Fetal Diseases - diagnosis
Fetal Diseases - genetics
Fetal Diseases - pathology
Headache. Facial pains. Syncopes. Epilepsia. Intracranial hypertension. Brain oedema. Cerebral palsy
Humans
Joubert syndrome
Male
Malformations of Cortical Development - complications
Malformations of Cortical Development - diagnosis
Malformations of Cortical Development - genetics
Malformations of Cortical Development - pathology
Malformations of the nervous system
Medical genetics
Medical sciences
molar tooth sign
Nervous system (semeiology, syndromes)
Neurology
polymicrogyria neuropathology
Pregnancy
Siblings
Syndrome
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Description
Summary:Joubert syndrome (JS) is characterized by hypotonia, ataxia, developmental delay, and a typical neuroimaging finding, the so‐called “molar tooth sign” (MTS). The association of MTS and polymicrogyria (PMG) has been reported as a distinct JS‐related disorder (JSRD). So far, five patients have been reported with this phenotype, only two of them being siblings. We report on one additional family, describing a living child with JS and PMG, and the corresponding neuropathological picture in the aborted brother. No mutations were detected in the AHI1 gene, the only so far associated with the JS + PMG phenotype. Moreover, linkage analysis allowed excluding all known gene loci, suggesting further genetic heterogeneity. © 2009 Wiley‐Liss, Inc.
ISSN:1552-4825
1552-4833
DOI:10.1002/ajmg.a.32936