Results 51 to 60 of about 526,418 (247)

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

Heterozygous Variants in LRP1 Cause a Neurodevelopmental Disorder With Congenital Heart Defects

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT LRP1 encodes the low‐density lipoprotein (LDL) receptor‐related protein 1 (LRP1), a transmembrane protein involved in endocytosis and activation of multiple signaling pathways. LRP1 variants have been implicated in the pathogenesis of congenital heart defects (CHD), Alzheimer's disease, and neurodevelopmental disorders (NDD).
Alyssa L. Rippert, Gudny Anna Arnadottir, Laura Bedinger, Nicola Brunetti‐Pierri, Jennifer Cech, Xin Chen, Yanmin Chen, Erika Chick, Sarah Dyack, Madeleine Franchi, Tanja Frey, David Genevieve, Ian Glass, Jorge Granadillo, Kelly A. Keener, Sara B. MacKay, Paige McDunnah, Vinod K. Misra, Kristin G. Monaghan, Sureni V. Mullegama, Cristina Peduto, Leia Peterman‐Prather, Anita Rauch, Cherith Somerville, Kari Stefansson, Katharina Steindl, Patrick Sulem, Telma Sulem, Pamela Trapane, Roberta Zeuli, Samuel Zinner, Kosuke Izumi   +31 more
wiley   +1 more source

Systematic Cardiac Phenotyping of Patients With Copy Number Variants in the 15q11.2 Breakpoint 1 to Breakpoint 2 Region: A Retrospective Cohort Study From Nine Pediatric Cardiac Centers

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Microdeletions impacting 15q11.2 breakpoint (BP) 1 to BP2, adjacent to the Prader–Willi critical region, have previously described neuropsychiatric associations, with potential low penetrance presentations of congenital heart disease (CHD) also identified.
Morgan B. Wright, Maria B. Padua, Lindsey R. Helvaty, Kim L. McBride, Gabrielle Geddes, Vidu Garg, Seema R. Lalani, Stephanie Burns Wechsler, Jennelle C. Hodge, Benjamin J. Landis, Stephanie M. Ware   +10 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

Spinal Involvement in Charge Syndrome: Implications for Management

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT CHARGE syndrome (OMIM #214800) is an autosomal dominant disorder caused by mutations in the CHD7 gene in most cases. Although originally defined by the CHARGE acronym (coloboma, heart defects, choanal atresia, growth restriction, genital hypoplasia, and ear anomalies), the recognized phenotype has expanded considerably to include highly ...
Adriana Gomes, Álvaro Martín‐Rodríguez, Miguel del Campo Casanelles, Marilyn C. Jones, Daniela Carvalho, Lynne M. Bird   +5 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

ADNP‐Related Helsmoortel–Van der Aa Syndrome: A Review of the Literature and Clinical Recommendations for Assessment and Monitoring

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT ADNP‐related Helsmoortel–Van der Aa syndrome (ADNP‐related HVDAS) is a single gene form of autism spectrum disorder (ASD) caused by pathogenic sequence variants in the activity‐dependent neuroprotective protein (ADNP) gene. In addition to ASD, ADNP‐related HVDAS is associated with a wide range of cognitive, behavioral, and physical health ...
Jarrett Fastman, Ana Kolevzon, Paige Siper, Tess Levy, Jeffrey M. Saland, Yitzchak Frank, Robert Rapaport, Kayla Kupietzky, William E. Bennett Jr, Bruce Gelb, Sandra Bedrosian Sermone, Alexander Kolevzon   +11 more
wiley   +1 more source

Togetherness of Ebstein anomaly and giant hairy nevus in a neonate: first case in the literature

The Turkish Journal of Pediatrics, 2018
Ebstein anomaly is a congenital heart defect in which the septal and posterior leaflets of the tricuspid valve are displaced through the apex of the right ventricle. Giant congenital melanocytic nevi originate from melanocytes.
Ferda Özlü, Mahmut Tülüce, Mehmet Satar, Nazan Özbarlas, Banu Kozanoğlu, Aydın Yücel   +5 more
doaj   +1 more source

Congenital absence of the right coronary artery with acute myocardial infarction: report of two cases and review of the literature

Journal of International Medical Research, 2020
Congenital absence of the right coronary artery (RCA) is a rare coronary anomaly. Few cases of this condition have been reported. Congenital absence of the RCA is considered as a benign anomaly.
Zhongbo Chen, Jinhua Yan, Xiaorong Han, Binay Kumar Adhikari, Jin Zhang, Ying Zhang, Jian Sun, Yonggang Wang   +7 more
doaj   +1 more source

A Novel Constitutional TUBB Variant Associated With Familial Malformations of Cortical Development

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Most pathogenic tubulin variants arise de novo in sporadic patients, causing severe brain malformations and significant neurodevelopmental impairment. The resulting reproductive disadvantage typically prevents these mutations from being transmitted to offspring.
Elena Cellini, Davide Mei, Mara Cavallin, Simona Fiori, Luciana Tramacere, Maria Elena Melica, Giulia Antonelli, Simona Virdò, Elena Parrini, Renzo Guerrini   +9 more
wiley   +1 more source