Treacher Collins syndrome (TCS) is a genetic disease that alters the development of bones and other tissues in the face, and presents variable expressivity. At least three genes TCOF1, POLR1D, and POLR1C were recognized to be at the origin of this syndrome which may be inherited through either an autosomal dominant or autosomal recessive pattern. TCS changes can be divided into otological, opht...

Oligodontia is the agenesis of numerous teeth (more than six teeth). Agenesis of teeth in primary and permanent dentition is a rare incidence and very few are reported in the dental literature. Although the etiology of congenital agenesis of teeth is unclear, several factors such as a tendency toward genetic predilection, metabolic disorders, trauma, infection, radiation or idiopathic reasons a...

PURPOSE This study was carried out to determine the prevalence, severity and pattern of hypodontia in Irish patients referred to a tertiary care clinic for developmental dental disorders. MATERIALS AND METHODS Details of 168 patients with hypodontia referred during the period 2002-2006 were entered in a database designed as a national record. Tooth charting was completed using clinical and ra...

  Pulmonary agenesis is a rare congenital anomaly in which there is absence of pulmonary parenchyma as well as its bold vessels. It is an unusual cause of respiratory distress in newborn. Unilateral agenesis of lung is often associated with other congenital anomalies. The condition may lead to diagnostic difficulties.   Right pulmonary agenesis has poor prognosis. Here we present a case of fem...

Early diagnosis of agenesis of the mandibular second premolar (P2) enhances management of the dental arch in the growing child. The aim of this study was to explore the relationship in the development of the mandibular first molar (M1) and first premolar (P1) at early stages of P2 (second premolar). Specifically, we ask if the likelihood of P2 agenesis can be predicted from adjacent developing ...

Kallmann syndrome (KS) is characterized by isolated hypogonadotropic hypogonadism (IHH) with anosmia and is sometimes associated with cleft lip/palate (CLP). In order to describe the clinical features, genetic etiology, and treatment outcome of KS males with CLP, we performed genetic screening for 15 known causal IHH genes (KAL1, FGFR1, NELF, FGF8, CHD7, WDR11, SEMA3A, KISS1R, KISS1, PROKR2, PR...

Congenital agenesis of lumbar vertebrae was diagnosed in a day-old female lamb based on radiology and clinical examinations. There was no neurological deficit in hindlimb and forelimb associated with standing disability. Radiography of the abdominal region revealed absence of lumbar vertebrae. Necropsy confirmed clinical and radiographic results. No other anomaly or agenesis was seen macroscopi...

Dental age is a somatic maturity indicator with importance in clinical and forensic dentistry. The purpose of this study is to compare the applicability of the Demirjian and Willems methods for dental age estimation in a group of Venezuelan children. Panoramic radiographs of 238 Venezuelan children aged 5-13 years were used to assess dental age using the methods described by Demirjian and Wille...