Genetic craniofacial disorders affecting the dentition

Yong Hee Patricia Chun, Paul H. Krebsbach, James P. Simmer

Producción científica: Chapter


Genetic disorders that alter early events in tooth development may be limited in their phenotypes to the dentition or compromise the development of other ectodermal organs, as in syndromes. This chapter provides a concise overview of dental genetic malformations that offer early evidence of undiagnosed syndromic or systemic conditions of bone and mineral. The most common disorder with dentin malformations is autosomal dominant (AD) osteogenesis imperfecta (OI), which is caused by defects in the genes that encode type I collagen. Metabolic diseases of bone are disorders of bone remodeling that characteristically involve the entire skeleton, and are often manifest in the oral cavity, which can lead to the diagnosis of the underlying systemic disease. Hypophosphatasia (HPP) is caused by loss of function mutation of the skeletal alkaline phosphatase. The classic oral presentation of childhood hypophosphatasia is premature loss of fully-rooted deciduous teeth.

Idioma originalEnglish (US)
Título de la publicación alojadaPrimer on the Metabolic Bone Diseases and Disorders of Mineral Metabolism
Número de páginas7
ISBN (versión digital)9781119266594
ISBN (versión impresa)9781119266563
EstadoPublished - ene 1 2018

ASJC Scopus subject areas

  • General Biochemistry, Genetics and Molecular Biology


Profundice en los temas de investigación de 'Genetic craniofacial disorders affecting the dentition'. En conjunto forman una huella única.

Citar esto