Oral manifestations of patients with Kenny-Caffey Syndrome

Youssra Moussaid; Didier Griffiths; Béatrice Richard; Anne Dieux; Martine Lemerrer; Juliane Léger; Didier Lacombe; Isabelle Bailleul-Forestier

doi:10.1016/j.ejmg.2012.03.005

Oral manifestations of patients with Kenny-Caffey Syndrome

Eur J Med Genet. 2012 Aug-Sep;55(8-9):441-5. doi: 10.1016/j.ejmg.2012.03.005. Epub 2012 Mar 30.

Authors

Youssra Moussaid¹, Didier Griffiths, Béatrice Richard, Anne Dieux, Martine Lemerrer, Juliane Léger, Didier Lacombe, Isabelle Bailleul-Forestier

Affiliation

¹ Paediatric Dentistry, Garancière Paris Diderot University, France.

PMID: 22522175
DOI: 10.1016/j.ejmg.2012.03.005

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.

Publication types

Review

MeSH terms

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

Supplementary concepts

Kenny-Caffey syndrome, type 2