Article
Premolar hypodontia is a common feature in Sotos syndrome with a mutation in the NSD1 gene.
American journal of medical genetics. Part A - 1 Nov 2009
Kotilainen Johanna, Pohjola Pia, Pirinen Sinikka, Arte Sirpa, Nieminen Pekka
Abstract excerpt
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...
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