Results 11 to 20 of about 1,234,995 (195)

Anatomical Asplenia in Cat Eye Syndrome: An Expansion of the Disease Spectrum [PDF]

Case Reports in Pediatrics, 2013
We report a patient with Cat eye syndrome (CES) associated with anatomical asplenia. To the best of our knowledge, there have been no prior reports of this association.
DeepakBabu Chellapandian, Adele Schneider   +1 more
doaj   +2 more sources

Unusual Variation of Asplenia Syndrome.

Japanese Heart Journal, 1991
The case of a 1-year-old cyanotic boy diagnosed with asplenia syndrome has been reported. By physical and laboratory examinations, levocardia, atrial inversion, primum ASD, single atrioventricular valve, single ventricle (left-hand morphology), rudimentary right ventricle (anterior, left-sided), pulmonary stenosis, left-sided vena cava, single vena ...
GUCUYENER, K, DEMIRSOY, S, UZAMIS, C, TUNAOGLU, FS, OLGUNTURK, R   +4 more
openaire   +5 more sources

Pulmonary Hemodynamic Changes with Nitric Oxide or Oxygen in a Patient with Asplenia, Single Right Ventricle, and Total Anomalous Pulmonary Venous Connection after Fontan Procedure

Case Reports in Cardiology, 2018
Asplenia syndrome is frequently complicated by a total anomalous pulmonary venous connection. Pulmonary venous obstruction, following total anomalous pulmonary venous connection surgery, is one of the risk factors for morbidity and mortality.
Hideharu Oka, Kouichi Nakau, Aya Kajihama, Masaya Sugimoto, Hiroshi Azuma   +4 more
doaj   +2 more sources

Asplenia Syndrome Complicated with Acute Gastric Volvulus: A Case Report and Review of the Literature

Sri Lanka Journal of Medicine
Acute gastric volvulus in asplenia syndrome is a very rare presentation and only a few cases have been published in the literature. A 10-month-old baby girl with a history of complex congenital cyanotic heart disease presented with a history of repeated ...
M. C. Wettasinghe, N. D. Wickramasinghe, J. Fernando   +2 more
doaj   +2 more sources

Ivemark syndrome: asplenia with kidney collecting duct cysts and polysplenia with cerebellar cyst

The Turkish Journal of Pediatrics, 2000
Two newborns, one male and one female, from two different families, with Ivemark syndrome proven at autopsy are reported. One of them had asplenia and another had polysplenia.
V Krźelj, I Kragić, M Glavina-Durdov, R Jakl, M Bucat, I Kuzmić-Prusac   +5 more
doaj   +3 more sources

Asplenia in ATR‐X syndrome: A second report

American Journal of Medical Genetics Part A, 2005
AbstractMutation at the ATR‐X locus is associated with severe mental retardation. Several conditions, initially reported as clinically distinct phenotypes, have now been attributed to ATR‐X mutation. Asplenia, in association with severe mental retardation, has been reported and subsequently demonstrated in one family to be due to ATR‐X mutation. We now
Leahy, RT, Philip, R, Gibbons, R, Fisher, C, Suri, M, Reardon, W   +5 more
openaire   +4 more sources

Genetics in Heterotaxy: A Case Series and Literature Review on DNAH9, PKD1L1, MMP21, and GDF1. [PDF]

Clin Genet
Integrating trio‐based genomic sequencing with detailed clinical evaluation across seven French–Vietnamese heterotaxy cases alongside a review of 108 published patients reveals strong genotype–phenotype correlations. Variants in DNAH9, PKD1L1, MMP21, and GDF1 define a broad spectrum from isolated situs inversus to complex conotruncal heart defects and ...
Ho TBT, Coudert A, Do TTH, Le TTT, Gauthier M, Dubucs C, Mortreux J, Monin P, Chatron N, Devillard F, Coutton C, Satre V, Harbuz R, Dufour W, Januel L, Celse T, Paris C, Consortium A, Tran LTM, Trinh HT, Jouk PS, Truong BL, Nguyen TKN, Thevenon J.   +23 more
europepmc   +2 more sources

Subtotal Versus Total Splenectomy in Children With Sickle Cell Disease: Clinical Outcomes and Splenic Function Assessed by Pocked Red Blood Cell Count. [PDF]

Am J Hematol
American Journal of Hematology, Volume 101, Issue 10, Page 2654-2658, October 2026.
Al Sibaaie A, Sissoko A, Capito C, Chardot C, de Montalembert M, Brousse V, Brice J, Bevacqua M, Roussel C, Dumas L, Cissé A, Buffet P, Allali S.   +12 more
europepmc   +2 more sources

Heme oxygenase-1 deficiency presenting with interstitial lung disease and hemophagocytic flares

Pediatric Rheumatology Online Journal, 2020
Background Heme oxygenase-1 (HMOX1) catalyzes the metabolism of heme into carbon monoxide, ferrous iron, and biliverdin. Through biliverdin reductase, biliverdin becomes bilirubin.
Alice S. Chau, Bonnie L. Cole, Jason S. Debley, Kabita Nanda, Aaron B. I. Rosen, Michael J. Bamshad, Deborah A. Nickerson, Troy R. Torgerson, Eric J. Allenspach   +8 more
doaj   +1 more source

ZEB2, a new candidate gene for asplenia. [PDF]

, 2014
International audience: Primary asplenia is a rare condition with poorly known etiology. Mowat-Wilson syndrome (MWS) is characterized by typical facial dysmorphisms, intellectual disability, microcephaly, epilepsy and the possible presence of internal ...
Patrick Edery, Dupuis-Girod, Sophie, Edery, Patrick, Sophie Dupuis-Girod, Massimiliano Rossi, Marie-Pierre Cordier, Rossi, Massimiliano, Linda Pons, Pons, Linda, Cordier, Marie-Pierre   +9 more
core   +1 more source