Neonatal diabetes, defined as the onset of diabetes within the first six months of life, is very rarely caused by pancreatic agenesis. Homozygous truncating mutations in the PTF1A gene, which encodes a transcriptional factor, have been reported in patients with pancreatic and cerebellar agenesis, whilst mutations located in a distal pancreatic-specific enhancer cause isolated pancreatic agenesi...

OBJECTIVE The aim of the study was to investigate the association between prenatal exposure to AEDs and the risk of dental agenesis and to differentiate between the possible effects of the different drugs used. METHODS Data on 214 exposed and 255 unexposed children, aged 12-18 years, were extracted from the Prescription Database of the Central Denmark Region and North Denmark Region and the D...

INTRODUCTION Tooth agenesis is a phenomenon that occurs relatively commonly. The incidence of the missing teeth presented in the previous reports varies according to the studied population. OBJECTIVE The aim of this study was to find the prevalence of tooth agenesis in a population group in Bucharest. METHODS AND RESULTS The prevalence and distribution of dental agenesis was determined in a...

unilateral pulmonary artery agenesis (upaa) is a rare congenital anomaly during the 4 th  week of gestational age. it is defined as an absence of pulmonary parenchyma and its supporting artery. a 9-year-old girl was admitted to our hospital because of chronic cough. chest examination showed a decrement in lung sound of right hemi-thorax with expiratory wheeze. chest radiography (cxr) revealed a...

purpose: to report a case of partial agenesis of the inferior rectus muscle in a child who was presented because of ocular misalignment and a deficient depression of the right eye. patient and findings: the patient was a 4-year-old girl. preoperative ct scans confirmed the clinical diagnosis of inferior rectus agenesis. the patient underwent augmented transposition of horizontal recti muscles w...

Objective: Agenesis of the diaphragm (AD) in adults is an extremely rare congenital malformation. To date, only a few descriptions this pathology have been published scientific literature. The article presents case detection left-sided AD 25-year-old patient operated on for diaphragmatic relaxation. Additional examination methods, including echocardiography and ultrasonography abdominal organs ...

BACKGROUND Severe maxillary hypoplasia in cleft patients is caused by a combination of pathogenic and iatrogenic factors. In this work, the authors investigated anatomical deficiencies in dentition for predicting Le Fort I maxillary advancement surgery for severe maxillary hypoplasia in cleft patients. METHODS Cleft lip-cleft palate and cleft palate patients older than 14 years of age were re...

Non-syndromic tooth agenesis (or non-syndromic congenitally missing tooth) is one of the most common congenital defects in humans affecting the craniofacial function and appearance. Single nucleotide polymorphisms (SNPs) have been associated with an individual's susceptibility to these anomalies. The aim of the present study was therefore to investigate the roles of the potentially functional S...