Results 31 to 40 of about 8,141 (357)

Heterotaxy syndrome with biliary atresia: a case report. [PDF]

Pan Afr Med J
Khazi AI, Yasser M, Rahamtalla D, Gupta B.   +3 more
europepmc   +2 more sources

Heterotaxy – Res ipsos loquitur [PDF]

Cardiology in the Young, 2021
AbstractThe essence of so-called heterotaxy is the potential disharmony between the arrangement of the bronchuses, abdominal organs, and the atrial appendages. Accurate description of the heart, however, can only be provided by specific description of these features, all of which are readily discernible in the clinical setting.
Robert H. Anderson, Diane E. Spicer, Rohit Loomba, Mani Ram Krishna, Justin T. Tretter   +4 more
openaire   +3 more sources

Heterotaxy syndrome: This is the left, right?

South African Journal of Radiology, 2015
Heterotaxy syndrome is a rare and complex disorder of the chest and abdominal organ arrangements, and presents a diagnostic challenge to the radiologist.
Lili Huang, Belinda J. Mitchell, Savvas Andronikou, Zarina I. Lockhat, Farhana Suleman   +4 more
doaj   +1 more source

Atrioventricular canal defect and genetic syndromes: the unifying role of sonic hedgehog [PDF]

, 2019
The atrioventricular canal defect (AVCD) is a congenital heart defect (CHD) frequently associated with extracardiac anomalies (75%). Previous observations from a personal series of patients with AVCD and "polydactyly syndromes" showed that the distinct ...
Baban, A, Calcagni, G, Dallapiccola, B, De Luca, A, Dentici, M L, Digilio, M C, Marino, B, Pugnaloni, F, Tartaglia, M, Versacci, P   +9 more
core   +1 more source

ZIC3 in Heterotaxy [PDF]

, 2018
Mutation of ZIC3 causes X-linked heterotaxy, a syndrome in which the laterality of internal organs is disrupted. Analysis of model organisms and gene expression during early development suggests ZIC3-related heterotaxy occurs due to defects at the earliest stage of left-right axis formation.
Bellchambers, Helen M., Ware, Stephanie M.   +1 more
openaire   +2 more sources

Heterotaxy: fluctuat nec mergitur [PDF]

Cardiology in the Young, 2021
AbstractThe International Pediatric and Congenital Cardiac Code (IPCCC) states thatvisceral heterotaxyis defined as “a congenital malformation in which the internal thoraco-abdominal organs demonstrate abnormal arrangement across the left-right axis of the body. By convention, in congenital cardiology, heterotaxy syndrome does not include patients with
Lucile Houyel, Anne Moreau de Bellaing, Damien Bonnet   +2 more
openaire   +2 more sources

Heterotaxy Syndrome with Polysplenia, Fused Adrenal Glands, and Diabetes Mellitus

Clinical Medicine Insights: Cardiology, 2022
Heterotaxy syndrome is a rare congenital heart disease with a disarrangement of the heart and abdominal organs. We present a young African female with features of heart failure, diffuse irregular cardiac murmurs, and palpable, tender epigastric mass.
Abid M Sadiq, Adnan M Sadiq
doaj   +1 more source

Inflammation, Active Fibroplasia, and End-stage Fibrosis in 172 Biliary Atresia Remnants Correlate Poorly With Age at Kasai Portoenterostomy, Visceral Heterotaxy, and Outcome [PDF]

, 2018
Published histologic studies of the hilar plate or entire biliary remnant at the time of Kasai portoenterostomy (KHPE) have not provided deep insight into the pathogenesis of biliary atresia, relation to age at surgery, prognosis or the basis for ...
Arva, Bove, Chen, Davenport, Davenport, De Jong, Feldman, Gautier, Gautier, Gautier, Harpavat, Harpavat, Humphrey, Kolb, Lobeck, Mack, Magalhaes, Mirkin, Nakamura, Petersen, Russo, Sarinet, Schwarz, Shen, Song, Stahlschmidt, Superina, Tan, Tanaka, Volpert, Wong, Yam-Puc, Zheng   +32 more
core   +1 more source

Identification of PKD1L1 Gene Variants in Children with the Biliary Atresia Splenic Malformation Syndrome [PDF]

, 2019
Biliary atresia (BA) is the most common cause of end‐stage liver disease in children and the primary indication for pediatric liver transplantation, yet underlying etiologies remain unknown.
Alonso, Estella M, Berauer, John‐Paul, Bezerra, Jorge A, Bull, Laura N, Chopra, Pankaj, Cutler, David J, Finegold, Milton J, Gibbs, Richard A, Guthery, Stephen L, Harpavat, Sanjiv, Hegde, Madhuri R, Kamath, Binita M, Karpen, Saul J, Loomes, Kathleen M, Magee, John C, Mezina, Anya I, Molleston, Jean P, Moore, Barry, Murray, Karen F, Muzny, Donna M, Network, for the Childhood Liver Disease Research, Okou, David T, Perlmutter, David H, Rajagopalan, Ramakrishnan, Rosenthal, Philip, Russo, Pierre, Sabo, Aniko, Sherker, Averell H, Sokol, Ronald J, Spinner, Nancy B, Squires, Robert H, Thompson, Richard J, Wang, Kasper S, Yandell, Mark   +33 more
core   +2 more sources

NPHP4 Variants Are Associated With Pleiotropic Heart Malformations [PDF]

, 2012
Rationale: Congenital heart malformations are a major cause of morbidity and mortality, especially in young children. Failure to establish normal left-right (L-R) asymmetry often results in cardiovascular malformations and other laterality defects of ...
Amack, J.D., Belmont, J.W., Bertoli-Avella, A.M., Breedveld, G., Devriendt, K., French, V.M., Frohn-Mulder, I.M.E., Graaf, B.M. de, Graaff, E. de, Helbing, W.A., Jadot, E., Jiang, Z.X., Laar, I.M.B.H. van de, Meijers-Heijboer, E.J., Mientjes, E., Najmabadi, H., Oostra, B.A., Rahimi, Z., Rohe, C., Roos-Hesselink, J.W., Schot, R., Severijnen, L.A., Swagemakers, S., Tienhoven, M. van, Venselaar, H., Verkerk, A., Wang, G.L., Wessels, M.W., Willemsen, R.   +28 more
core   +9 more sources