Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
2814126 | European Journal of Medical Genetics | 2012 | 5 Pages |
Abstract
Kenny–Caffey syndrome (KCS) is a rare osteosclerotic bone dysplasia characterized by hypocalcemia, short stature, ophthalmological features, and teeth anomalies. The TBCE gene coding for a tubulin-specific chaperone E, is located at chromosome 1q42-q43, and is responsible for the recessive form. After reviewing the literature, we found around 60 cases, however with limited dental data. In this article 5 new individuals with KCS, are described focusing on oral findings. All cases had short roots and showed dental anomalies as hypo/oligodontia, microdontia. Dental anomalies are a constant feature in KCS, further study is required to better delineate the syndrome.
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Authors
Youssra Moussaid, Didier Griffiths, Béatrice Richard, Anne Dieux, Martine Lemerrer, Juliane Léger, Didier Lacombe, Isabelle Bailleul-Forestier,