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/geneticsABSTRACT
We report a new case of oculo-ectodermal syndrome who developed giant cell granulomas of the jaw, similar to the patient previously described by Toriello et al. (1999). We review reported cases to better delineate the clinical spectrum of this rare condition. Giant cell granulomas developing in childhood seem to be part of the oculo-ectodermal syndrome. This condition appears to be a new tumour predisposition syndrome.
