Results 21 to 30 of about 1,356 (199)

Dolor abdominal crónico asociado con agenesia total de mesenterio

Repertorio de Medicina y Cirugía, 2018
La agenesia del mesenterio es una anomalía rara y por esta razón no se piensa cuando se tiene una historia de dolor crónico abdominal. Se han reportado casos de agenesia de mesenterio, partes de intestino y arteria mesentérica superior, junto con atresia
Juan Carlos Bonilla, Fernando Polo, Johanna Vargas, Omar Gómez   +3 more
doaj   +1 more source

Agenesia de miembros superiores en el feto de una madre expuesta a Topiramato

Revista Internacional de Salud Materno Fetal
El topiramato es un agente farmacológico antiepiléptico de nueva generación, empleado para el tratamiento de crisis parciales y tónico-clónicas primarias en adultos y niños, en monoterapia o en combinación con otros fármacos, y como profilaxis de la ...
Mar Gimeno-Vicente, Isabel Moscardó-Chafer   +1 more
doaj   +1 more source

Agenesia pulmonar

Universitas Médica, 2009
La agenesia pulmonar es una alteración poco frecuente, con predominio en el sexo femenino y sin preferencia por la lateralidad. Reportamos el caso de un recién nacido masculino con diagnóstico prenatal de hernia diafragmática. Al nacer, se descartó esta patología y se hizo una impresión diagnóstica de malformación adenomatoide quística (malformación ...
MERCEDES OLAYA, GISEL GORDILLO, CARLOS A. GARCÍA, DAVID TORRES   +3 more
openaire   +3 more sources

Genetic Abnormalities and Clinical Management of Fetal Genitourinary System Anomalies in Eastern China

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT To investigate the correlation between genetic abnormalities and fetal genitourinary (GU) anomalies in Eastern China and to provide assistance for the clinical management of fetuses with different types of GU anomalies. Five hundred forty‐five fetuses with GU anomalies were enrolled, undergoing karyotyping, copy number variation sequencing ...
Jie Liang, Jiebin Wu, Lin Zhang, Yunmeng Qi, Yi Wang, Xu Cao, Jingfang Zhai   +6 more
wiley   +1 more source

PREVALÊNCIA DE AGENESIA DENTÁRIA EM PACIENTES SUBMETIDOS A TRATAMENTO ORTODÔNTICO: UM ESTUDO RADIOGRÁFICO

Revista Uningá, 2021
A anomalia dentária de desenvolvimento mais comum na dentição humana é a agenesia dentária, que pode acontecer nas dentições decídua e permanente.
Camila Afonso Paravizo, Mônica Souza Pinto, Roberta Mansur Caetano, Alcemar Gasparini Netto, Maíra Tavares Faria Cassab   +4 more
doaj  

Differentiating the Clinical and Variant Spectrum of Hardikar Syndrome From Other MED12‐Related Developmental Disorders

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The rare X‐linked female‐restricted Hardikar syndrome (HDKR, OMIM # 301068) is characterized by multiple congenital anomalies including orofacial clefts, gastrointestinal, genitourinary, and cardiac anomalies, but cognitive and neurobehavioral development is rarely impaired.
Tinne Warmoeskerken, Miel Theunis, Kris Van den Bogaert, Koenraad Devriendt, Jeroen Breckpot   +4 more
wiley   +1 more source

Total agenesis of the corpus callosum in a patient with childhood-onset schizophrenia Agenesia completa de corpo caloso em um paciente com esquizofrenia de início na infância

Arquivos de Neuro-Psiquiatria, 2007
The hypothesis that schizophrenia involves aberrant inter-hemispheric communication has a long pedigree, however its precise role remains unclear. We therefore report the case of a total agenesis of the corpus callosum in a 21-year-old man with childhood-
Jaime Eduardo Cecilio Hallak, José Alexandre de Sousa Crippa, Joel Porfírio Pinto, João Paulo Machado de Sousa, Clarissa Trzesniak, Serdar Murat Dursun, Phillip McGuire, John Francis William Deakin, Antonio Waldo Zuardi   +8 more
doaj   +1 more source

Case Report With Biallelic Variants in GCNT2 Implicates Exon 1B in Congenital Cataracts

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT GCNT2‐related cataracts is a disorder characterized by bilateral congenital cataracts (CC) of various types (with or without the adult i blood phenotype) and is caused by biallelic variants in GCNT2, which has 3 major isoforms, differentiated by alternative splicing of the first exon (known as exon 1A, B, and C).
Audrey O'Neill, Cindy Bayer, Emily McQuillen, Erica D. Smith, Meghan Towne, Dallas Reed   +5 more
wiley   +1 more source

Agenesia de artéria pulmonar direita

Medicina, 2020
A agenesia de artéria pulmonar é uma malformação congênita rara, que ocorre devido ao não desenvolvimento do sexto arco aórtico. Entretanto, não é relacionada com malformações cardíacas.
Ingred Stephany Domingues da Silva, Eugênio Fernandes de Magalhães, Letícia Carolina Malaquias Pereira, Luiza de Castro Cançado Braga, Victor Zenatti Femía, Cairo Barcelos Alves Serrano, Ana Luíza Rezende Collani, Paula Vieira Penha   +7 more
doaj   +1 more source

KDM2B‐Related Neurodevelopmental Disorder A Case‐Series Supporting the CxxC Domain Phenotype With Emphasis on Ocular and Dermatologic Features

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The KDM2B‐related neurodevelopmental disorder is a recently identified Mendelian disorder of the epigenetic machinery associated with pathogenic variants in KDM2B. Global developmental delay, intellectual disability, congenital anomalies, and systemic manifestations characterize the disorder.
Adriana Gomes, Álvaro Martín‐Rodríguez, Miguel Del Campo, Lynne M. Bird   +3 more
wiley   +1 more source