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Eur J Med Genet ; 55(8-9): 441-5, 2012.
Article in English | MEDLINE | ID: mdl-22522175

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.


Subject(s)
Abnormalities, Multiple , Dwarfism , Hyperostosis, Cortical, Congenital , Hypocalcemia , Tooth Abnormalities , Abnormalities, Multiple/diagnostic imaging , Abnormalities, Multiple/genetics , Dwarfism/diagnostic imaging , Dwarfism/genetics , Foot Deformities, Congenital/diagnostic imaging , Foot Deformities, Congenital/genetics , Humans , Hyperostosis, Cortical, Congenital/diagnostic imaging , Hyperostosis, Cortical, Congenital/genetics , Hypocalcemia/diagnostic imaging , Hypocalcemia/genetics , Phenotype , Radiography , Tooth Abnormalities/diagnostic imaging , Tooth Abnormalities/genetics
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