| Literature DB >> 22522175 |
Youssra Moussaid1, Didier Griffiths, Béatrice Richard, Anne Dieux, Martine Lemerrer, Juliane Léger, Didier Lacombe, Isabelle Bailleul-Forestier.
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.Entities:
Mesh:
Year: 2012 PMID: 22522175 DOI: 10.1016/j.ejmg.2012.03.005
Source DB: PubMed Journal: Eur J Med Genet ISSN: 1769-7212 Impact factor: 2.708