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Premolar hypodontia is a common feature in Sotos syndrome with a mutation in the NSD1 gene
Author(s) -
Kotilainen Johanna,
Pohjola Pia,
Pirinen Sinikka,
Arte Sirpa,
Nieminen Pekka
Publication year - 2009
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.33062
Subject(s) - hypodontia , sotos syndrome , macrocephaly , medicine , premolar , anodontia , oligodontia , frontal bossing , abnormality , dentistry , orthodontics , permanent teeth , molar , dermatology , pediatrics , anatomy , psychiatry
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. © 2009 Wiley‐Liss, Inc.