The primary teeth are essential for bone development and establishment of the arches on occlusion. Thus, the congenitally absence of teeth may trigger a shift in the balance of the occlusion, promoting disharmony in the structures of the maxilla-mandibular system. However, some interventions are possible to be performed in these cases even in pediatric patients, to redirect growth, preventing g...

TP63 gene encodes p63, which is a major transcription factor of the epithelial system. Mutations in underlie variety autosomal dominantly-inherited ectodermal dysplasia syndromes, which, most cases, share several symptoms including cleft lip/palate. In this study, we analyzed child with certain showing hypotrichosis, oligodontia, and hypoplastic nails, but did not have We identified novel heter...

Background: Microcephalic Osteodysplastic Primordial Dwarfism type 2 (MOPD II) is a rare untreatable genetic disorder characterized by severe prenatal and postnatal growth retardation, microcephaly, bird-headed face (receding forehead chin, beaklike nose, prominent eyes), skeletal abnormalities, abnormal dentition, hair skin changes, high-pitched nasal voice, an increased risk for insulin resis...

The most common congenital and developmental anomaly in teeth is the missing of one or more of them. Congenitally missing teeth (CMT) or teeth agenesis mentions failure of tooth formation due to disturbances during the early stages of tooth germ development. There are several definitive treatment options for these patients including fixed, removable or implant-supported prostheses. Economic lim...

Introduction. Johanson-Blizzard syndrome is a very rare genetic disorder caused by mutation of the ubiquitin protein ligase E3 component N-recognin 1 (UBR1). Clinical diagnosis based on pathognomonic combination congenital exocrine pancreatic insufficiency with facial dysmorphology (nasal wing hypo/aplasia, and oligodontia permanent teeth). Diagnosis confirmed screening UBR1 gene. The purpose t...

Tooth agenesis is one of the most common anomalies of human dentition. Recent genetic studies have provided information regarding a number of genes related to both syndromic and non-syndromic forms of hypodontia. In a previous study, we found that polymorphism in rs11001553 of DKK1 was associated with hypodontia in the Chinese Han population. In this study, we extended this investigation to 89 ...

BACKGROUND This study aimed to review the results related to head and jaw disorders in cases of ectodermal dysplasia. The evaluation of ectodermal dysplasia cases was made by clinical examination and examination of the jaw and facial areas radiologically and on cone-beam 3-dimensional dental tomography (CBCT) images. MATERIAL AND METHODS In the 36 cases evaluated in the study, typical clinica...