AIM Tooth agenesis is characterised by the congenital absence of one or more teeth. The Pax9 gene has been associated with nonsyndromic forms. MATERIALS AND METHODS To investigate the molecular mechanisms, we evaluated specific haplotypes frequency in exon 3 of the Pax9 gene in 26 patients and 21 controls, using an Italian population. RESULTS Presence of His239His and the Ala240Pro were con...

Tooth agenesis in the reduction of tooth number which includes hypodontia, oligodontia and anodontia is caused by disturbances and gene mutations that occur during odontogenesis. To date, several genetic mutations that unlock the causes of non-syndromic tooth agenesis are being discovered; these have been associated with certain illnesses because tooth development involves the interaction of se...

Experimental and animal studies, as well as genetic mutations in man, have indicated that the development of dentition is under the control of several genes. So far, mutations in MSX1 and PAX9 have been associated with dominantly inherited forms of human tooth agenesis that mainly involve posterior teeth. We identified a large kindred with several individuals affected with molar oligodontia tha...

Prosthodontists can serve as productive members of the craniofacial team and can help coordinate multidisciplinary treatment of patients with congenital anomalies. Often there are few, if any, evidence-based criteria to assist them in developing “correct” clinical protocols. When syndromes involve hypodontia, oligodontia, or anodontia, coordinating prosthetic treatment through phases of three-d...

ectodermal dysplasia is a hereditary disorder associated with abnormal development of embryonic ectodermally-derived organs including teeth, nails, hair and sweat glands. hypodontia of the primary and permanent dentition is the most common oral finding. therefore, affected patients need dental prosthetic treatments during their developmental years. this report presents two cases of children aff...

Both BMP2 and BMP4 are involved in tooth development. We examined phenotypes and BMP2 and BMP4 gene variations in two Mexican oligodontia families. Physical and oral examinations and panoramic radiographs were performed on affected and unaffected members in these two families. The affected members lacked six or more teeth. DNA sequencing was performed to detect BMP2 and BMP4 gene variations. Th...

Tooth agenesis is one of the most common congenital anomalies in humans. However, the etiology of tooth agenesis remains largely unclear, as well as evidence base useful for genetic counseling. Therefore, we estimated the prevalence and sibling recurrence risk, and investigated agenetic patterns systematically. Tooth agenesis was classified into two subtypes: hypodontia (one to five missing tee...

Hypodontia is a congenital absence of 1 or more permanent teeth excluding third molars1-4 and it’s prevalence varies from 3.5% to 6.5% in permanent dentition, and approximately 1% in primary dentition5. Oligodontia or severe hypodontia is defined as a congenital absence of 6 or more teeth excluding the third molars3,5-7, which may occur either alone or along with a systemic disorder, such as ec...