| Molar tooth sign of the midbrain-hindbrain junction: occurrence in multiple distinct syndromes. | |
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MedLine Citation:
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PMID: 14981712 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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The Molar Tooth Sign (MTS) is defined by an abnormally deep interpeduncular fossa; elongated, thick, and mal-oriented superior cerebellar peduncles; and absent or hypoplastic cerebellar vermis that together give the appearance of a "molar tooth" on axial brain MRI through the junction of the midbrain and hindbrain (isthmus region). It was first described in Joubert syndrome (JS) where it is present in the vast majority of patients with this diagnosis. We previously showed that the MTS is a component of several other syndromes, including Dekaban-Arima (DAS), Senior-Löken, and COACH (cerebellar vermis hypoplasia (CVH), oligophrenia, ataxia, coloboma, and hepatic fibrosis). Here we present evidence that the MTS is seen together with polymicrogyria, Váradi-Papp syndrome (Orofaciodigital VI (OFD VI)), and a new syndrome with encephalocele and cortical renal cysts. We also present a new patient with COACH syndrome plus the MTS. We propose that the MTS is found in multiple distinct clinical syndromes that may share common developmental mechanisms. Proper classification of patients with these variants of the MTS will be essential for localization and identification of mutant genes. |
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Authors:
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Joseph G Gleeson; Lesley C Keeler; Melissa A Parisi; Sarah E Marsh; Phillip F Chance; Ian A Glass; John M Graham Jr; Bernard L Maria; A James Barkovich; William B Dobyns |
Publication Detail:
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Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't |
Journal Detail:
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Title: American journal of medical genetics. Part A Volume: 125A ISSN: 1552-4825 ISO Abbreviation: Am. J. Med. Genet. A Publication Date: 2004 Mar |
Date Detail:
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Created Date: 2004-02-24 Completed Date: 2004-09-28 Revised Date: 2008-05-21 |
Medline Journal Info:
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Nlm Unique ID: 101235741 Medline TA: Am J Med Genet A Country: United States |
Other Details:
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Languages: eng Pagination: 125-34; discussion 117 Citation Subset: IM |
Copyright Information:
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Copyright 2003 Wiley-Liss, Inc. |
Affiliation:
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Division of Pediatric Neurology, Department of Neurosciences, University of California, San Diego, California 92093-0624, USA. jogleeson@ucsd.edu |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Abnormalities, Multiple
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diagnosis* Brain / abnormalities*, pathology* Child Child, Preschool Developmental Disabilities / diagnosis* Female Humans Infant Magnetic Resonance Imaging Male Pedigree Syndrome |
| Comments/Corrections | |
Comment In:
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Am J Med Genet A. 2005 Aug 1;136A(4):416-7
[PMID:
15988746
]
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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