Search results for "anomalies"
showing 10 items of 97 documents
Unilateral multicystic dysplastic kidney in infants exposed to antiepileptic drugs during pregnancy
2007
Prenatal exposure to antiepileptic drugs (AEDs) increases the risk of major congenital malformations (MCM) in the fetus. AED-related abnormalities include heart and neural tube defects, cleft palate, and urogenital abnormalities. Among the various congenital anomalies of the kidney and urinary tract (CAKUT), multicystic dysplastic kidney (MCDK) disease is one of the most severe expressions. Although prenatal ultrasound (US) examination has increased the prenatal diagnosis of MCDK, the pathogenesis is still unclear. We report on four cases of MCDK in infants of epileptic women treated with AEDs during pregnancy. From October 2003 to June 2006, we observed four infants with unilateral MCDK bo…
New Physics adventures in the LHC age
2017
La física de partículas está viviendo actualmente una era de exploración que comenzó con la observación en el LHC del bosón de Higgs, proporcionando así al Modelo Estándar de la Física de Partículas la elusiva pieza final que lo completa. Si bien esta teoría es extremadamente exitosa, se acepta comúnmente que no es la teoría final ya que no puede responder a todas las preguntas teóricas ni a ciertas observaciones experimentales. Por lo tanto, se espera que Nueva Física que extienda al Modelo Estándar aparezca pronto, aunque esto bien podría ser sólo una esperanza. Esta tesis recoge algunas de las aventuras en la búsqueda de Nueva Física. Se organiza en tres partes: la Parte I introduce, en …
Oral, facial, digital, vertebral anomalies with psychomotor delay: a mild form of OFD type Gabrielli?
2002
A girl with oral, facial, and digital anomalies presented at birth with a large cleft palate filled by a nasopharyngeal mass and was found later to have several vertebral anomalies and mental retardation. A similar phenotype has been previously reported in a sporadic male patient [Gabrielli et al., 1994: Am J Med Genet 53:290-293], suggesting a new variant form of oral-facial-digital syndrome.
A skeletal Class III malocclusion with agenesis and canine-bicuspid transposition: a nonsurgical approach
2021
Abstract Background The present case report describes the orthodontic management of a patient who presented with a skeletal Class III malocclusion combined with other dental anomalies. The malocclusion was complicated by agenic maxillary lateral incisors and a lower right second premolar, in company with the transposition of the maxillary canines and premolars. Methods Dentoalveolar compensation of the anteroposterior jaw relationship was performed. The upper deciduous lateral incisors were extracted and the spaces closed, so that the first premolars replaced the missing lateral incisors while the canine transposition was maintained Results Satisfactory results were obtained which provided …
Cerebral White Matter Lesions and Dysmorphisms: Signs Suggestive of 6p25 Deletion Syndrome—Literature Review
2019
AbstractDeletion of the region including chromosome 6p25 has been defined as a syndrome, with more than 68 reported cases. Individuals affected by the syndrome exhibit variable findings, including developmental delay and intellectual disability, cardiac anomalies, dysmorphic features, and—less commonly—skeletal and renal malformations. Ocular and hearing abnormalities are the most notable presenting features. The region encompasses more than 15 genes, of which the FOX group is the most likely causal factor of the clinical manifestations. We report the case of a 2-year-old child with developmental delay, generalized hypotonia, facial dysmorphism, and anomalies involving malformations of the …
Use of asthma medication during pregnancy and risk of specific congenital anomalies: A European case-malformed control study.
2015
Background: Pregnant women with asthma need to take medication during pregnancy.Objective: We sought to identify whether there is an increased risk of specific congenital anomalies after exposure to antiasthma medication in the first trimester of pregnancy.Methods: We performed a population-based case-malformed control study testing signals identified in a literature review. Odds ratios (ORs) of exposure to the main groups of asthma medication were calculated for each of the 10 signal anomalies compared with registrations with nonchromosomal, nonsignal anomalies as control registrations. In addition, exploratory analyses were done for each nonsignal anomaly. The data set included 76,249 reg…
Weyers acrodental dysostosis in a family.
1984
A four generation family with postaxial polydactyly of hands and feet and dental anomalies is reported. Lower and upper incisors were abnormal in shape and number. Additional findings were prominent ear anthelices, hypoplastic and dysplastic nails and mild shortness of stature. Inheritance was dominant with variable expression. It is proposed that the family presents the syndrome of acrofacial dysostosis described by Weyers in 1952. To differentiate it from other acrofacial dysostoses, we suggest naming the condition acrodental dysostosis.
Ortodoncia interceptiva: Necesidad de diagnóstico y tratamiento temprano en las mordidas cruzadas transversales
2006
Las mordidas cruzadas corresponden a una maloclusión en el plano transversal del maxilar definiéndose como la alteración en la correcta articulación de las cúspides palatinas de molares y premolares superiores con las fosas de molares y premolares inferiores. Dada la frecuencia de alteraciones transversales que se presentan en la consulta de odontología general, vemos la necesidad de realizar un buen diagnostico diferencial de las mismas para poder adecuar nuestros tratamientos de la forma más eficaz y con los Resultados más estables posibles. Para ello se ha de diferenciar entre compresión esquelética, compresión dentoalveolar y compresión dental ya que estos tres supuestos requerirán trat…
Meristic character counts and incidence of skeletal anomalies in the wild Diplodus puntazzo (Cetti, 1777) of an area of the south-eastern Mediterrane…
2006
The sharpsnout seabream (Diplodus puntazzo, Cetti 1777) is a species rarely found in coastal areas of Sicily, but is important in Mediterranean aquaculture. In order to detect the number of meristic characters and the main types of body deformation, 588 specimens of sharpsnout seabream were collected from a coastal zone of south-east Sicily (Licata, AG—Italy). Different sized classes were examined and the relationship between size and the number of meristic characters (number of fin rays) was found. The number of vertebrae, anal fin hard rays and dorsal fin hard rays was constant and did not vary with size. Seventeen types of skeletal and fin anomalies were observed, but no grave anomalies …