| Premolar hypodontia is a common feature in Sotos syndrome with a mutation in the NSD1 gene. | |
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MedLine Citation:
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PMID: 19876911 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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The major diagnostic manifestations in Sotos syndrome include frontal bossing, downward slanting palpebral fissures, a prominent jaw, learning disability, and childhood overgrowth. Over 90% of clinically diagnosed patients have an abnormality in the NSD1 gene. We investigated the dental manifestations of this disorder and found one or several premolar teeth were absent in 9 out of 13 (69%) affected children and adolescents. A heterozygous mutation in the NSD1 gene was identified in 12 patients, including all patients with hypodontia. The severity of the hypodontia seemed to increase with the severity of aberration of the NSD1. More than 50% of the patients had enamel defects or excessive tooth wear. Dental age, based on tooth formation, was within the normal range. A characteristic occlusion for Sotos syndrome could not be identified. As agenesis of premolars was a common feature in these patients affected with Sotos syndrome, we recommend panoramic radiography at the age of 7 years. If premolars are missing, proper preventive and restorative care is necessary to maintain the deciduous molars. |
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Authors:
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Johanna Kotilainen; Pia Pohjola; Sinikka Pirinen; Sirpa Arte; Pekka Nieminen |
Publication Detail:
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Type: Journal Article; Research Support, Non-U.S. Gov't |
Journal Detail:
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Title: American journal of medical genetics. Part A Volume: 149A ISSN: 1552-4833 ISO Abbreviation: Am. J. Med. Genet. A Publication Date: 2009 Nov |
Date Detail:
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Created Date: 2009-11-05 Completed Date: 2010-01-06 Revised Date: - |
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: 2409-14 Citation Subset: IM |
Copyright Information:
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Copyright 2009 Wiley-Liss, Inc. |
Affiliation:
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Department of Orthodontics, Institute of Dentistry, University of Helsinki, Helsinki, Finland. johanna.kotilainen@kolumbus.fi |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Abnormalities, Multiple
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genetics*,
physiopathology Adolescent Anodontia / complications*, genetics*, physiopathology Bicuspid / pathology* Body Height Body Weight Cephalometry Child Child, Preschool Dental Enamel / pathology, physiopathology Dental Occlusion Dentition Female Humans Intracellular Signaling Peptides and Proteins / genetics* Male Mutation / genetics* Nuclear Proteins / genetics* Syndrome Tooth Abnormalities / complications, genetics Tooth Wear / complications, physiopathology |
| Chemical | |
Reg. No./Substance:
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0/Intracellular Signaling Peptides and Proteins; 0/NSD1 protein, human; 0/Nuclear Proteins |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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