Results 61 to 70 of about 117,358 (311)

Intervention challenges in patients with congenital heart disease with coexisting interruption of the inferior vena cava - A case series

Heart Views, 2021
Interruption of the inferior vena cava with azygos continuation is a rare congenital anomaly. This anomaly becomes clinically important during cardiac interventions.
Saurabhi Das, Mahua Roy, Amitabh Chattopadhya, Debasree Ganguly   +3 more
doaj   +1 more source

High‐Resolution Genomic Characterization of WAGR Spectrum Disorder: Insights From a Novel Cohort and Literature Synthesis, and Validation of Patient‐Reported Data

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT WAGR spectrum disorder (WAGRSD) is an ultra‐rare congenital disorder caused by heterozygous deletion of chromosome 11p13. While classically associated with Wilms tumor, Aniridia, Genitourinary anomalies, and a Range of developmental delays, accurate delineation of the deletion is critical for prognosis because the phenotypic spectrum extends ...
Andrew M. George, Bamelak T. Duki, Zoe S. Katz, Aravind Viswanathan, Suzanne P. MacFarland, Evan R. Hathaway, Caitlin Monahan, John Morris, Kelly L. Trout, Shari M. Krantz, Arupa Ganguly, Jennifer M. Kalish   +11 more
wiley   +1 more source

Closed loop right colon ischemia caused by omphalomesenteric band and Meckle's diverticulum

Journal of Pediatric Surgery Case Reports, 2022
Meckel's diverticulum is the most common congenital anomaly of the gastrointestinal tract. Although intestinal obstruction is the most common complication of this anomaly, cecal volvulus is an extremely rare associated condition.
Samin Khoei, Nooshin Oliaie Rezaei, Hojatollah Raji, Fatemeh Zamani   +3 more
doaj   +1 more source

Clinical, Behavioral and Neuroradiological Phenotype in an Italian Cohort of Patients With Xia Gibbs Syndrome: A Multicenter Cross‐Sectional Study and Systematic Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous variants in the AHDC1 gene are associated with Xia Gibbs Syndrome (XGS), a genetic disorder with a highly variable phenotype. Cognitive impairment, motor delay, language delay, neonatal hypotonia, and sleep apnea are considered “cardinal” signs of the disease.
Giulia Cinelli, Stefania Della Vecchia, Patrizia Bergonzini, Elisa Caramaschi, Elisabetta Spezia, Claudia Parenti, Simona Filomena Madeo, Laura Lucaccioni, Cavalleri Francesca, Marisa Pugliese, Federico Raviglione, Clara Colonna, Olga Calabrese, Ilaria Stanghellini, Maria Carmen Marongiu, Enrico Biagioni, Anna Rita Ferrari, Roberta Battini, Lorenzo Iughetti   +18 more
wiley   +1 more source

Ambient Air Pollution and Risk of Congenital Anomalies in England, 1991-99

, 2009
OBJECTIVES: To investigate whether there is an association between risk of congenital anomaly and annual ward level exposure to air pollution in England during the 1990s.
H Dolk, Wellesley, D, Vrijheid, M., Vrijheid, M, M Vrijheid, Abramsky, L, Wellesley, D., J Rankin, B Armstrong, Dolk, H, K Lachowycz, D Wellesley, Dolk, H., L Abramsky, Lachowycz, K., Boyd, PA, Lachowycz, K, Abramsky, L., Armstrong, B, P A Boyd, Rankin, J., Boyd, P, Boyd, P., Armstrong, B., Rankin, J   +24 more
core   +1 more source

The Homozygous p.(Arg215Ter) Variant in XRCC2 Is Associated With Atypical Fanconi Anemia Without Major Hematological Abnormalities in Childhood

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Fanconi Anemia (FA) is the most frequent inherited bone marrow failure syndrome. A role for the XRCC2 gene in FA was suspected in 2012 and confirmed in 2016, but only two affected individuals have been described thus far, and no long‐term follow‐up is available.
Sabina Cenciarelli, Giulia Bruna Marchetti, Maria Iascone, Maria Grazia Patricelli, Sara Giangiobbe, Gabriella Cinzia Pozzobon, Miriam Nella Savini, Fabio Giglio, Alessandro Aiuti, Paola Carrera, Francesca Ferrua, Angela Peron   +11 more
wiley   +1 more source

Heart failure in two West Highland white terriers caused by congenital angiomatous cardiac anomaly

, 2007
The paper describes the clinical and pathological characteristics of an unusual cystic congenital cardiac anomaly that caused clinical signs of congestive heart failure, respiratory distress and cardiac arrhythmias in two West Highland white terrier ...
Little, C J L, C. W. Lombard, Pirie, H, S. Schöniger, Kovacevic, A, C. J. L Little, Schöniger, S, Lombard, C W, A. Kovačević   +8 more
core   +1 more source

Response of an Infant With Presumed Multiple Acyl‐CoA Dehydrogenase Deficiency (MADD) to Ketone Supplementation

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Multiple Acyl‐CoA Dehydrogenase Deficiency (MADD) is an autosomal recessive inborn error of metabolism caused by biallelic pathogenic variants in one of three known genes: ETFA, ETFB, and ETFDH. It can cause multisystem dysfunction, including cardiomyopathy in severe cases.
Yutaka Furuta, Kaitlyn N. Bloom, Jerry Vockley, Angela R. Grochowsky, Neena S. Agrawal, Ellen W. Strickler, Natalie N. Owen, Erica T. Gray, B. Lakshitha A. Perera, Eric R. Gamazon, Lynette C. Rives, Hua‐Chang Chen, Qi Liu, Rizwan Hamid, Joy D. Cogan, John A. Phillips III, Thomas A. Cassini, Bryce A. Schuler   +17 more
wiley   +1 more source

Congenital esophageal stenosis caused by tracheobronchial remnants: A case report

Radiology Case Reports, 2023
Congenital esophageal stenosis caused by tracheobronchial remnants is a rare anomaly in infants and children that results in dysphagia and recurrent pneumonia.
Soung Hee Kim, MD
doaj   +1 more source

Hepatopulmonary fusion: A rare variant of congenital diaphragmatic hernia

, 2020
BACKGROUND: Hepatopulmonary fusion (HPF), a rare anomaly associated with right congenital diaphragmatic hernia (CDH), is characterized by a fibrovascular fusion between herniated liver and lung parenchyma.
Congenital, Diaphragmatic Hernia Study Group, Ferguson, DM   +1 more
core   +1 more source