Results 31 to 40 of about 1,162 (183)

Ectopia cordis about a case at Ourossogui regional hospital center [PDF]

, 2021
We report in this work, an extremely rare and major case of anterior body wall defects included ectopia cordis define by abnormal location of heart outside of the thorax. This case was diagnosed at the maternity of Ourossogui regional hospital center, in
Diakhate, Abdoulaye, Diallo, Abdou K., Dieng, Cheikh, Diop, Daba, Guèye, Mame D. N., Guèye, Mamour, Mbodji, Ameth, Ndour, Simon B., Wade, Mouhamadou   +8 more
core   +2 more sources

Turner syndrome‐omphalocele association: Incidence, karyotype, phenotype and fetal outcome

Prenatal Diagnosis, Volume 43, Issue 2, Page 183-191, February 2023., 2023
Abstract Objective Omphalocele is known to be associated with genetic anomalies like trisomy 13, 18 and Beckwith–Wiedemann syndrome, but not with Turner syndrome (TS). Our aim was to assess the incidence of omphalocele in fetuses with TS, the phenotype of this association with other anomalies, their karyotype, and the fetal outcomes.
Ivonne Bedei, Karl‐Philipp Gloning, Luc Joyeux, Matthias Meyer‐Wittkopf, Daria Willner, Martin Krapp, Alexander Scharf, Jan Degenhardt, Kai‐Sven Heling, Peter Kozlowski, Kathrin Trautmann, Kai M. Jahns, Annegret Geipel, Ismail Tekesin, Michael Elsässer, Lucas Wilhelm, Ingo Gottschalk, Jan‐Erik Baumüller, Cahit Birdir, Andreas Schröer, Felix Zöllner, Aline Wolter, Johanna Schenk, Tascha Gehrke, Alicia Spaeth, Roland Axt‐Fliedner   +25 more
wiley   +1 more source

First reported case of Pentalogy of Cantrell variant with good outcome in a 32 week gestational age monozygotic twin with twin-twin transfusion syndrome

Journal of Pediatric Surgery Case Reports, 2019
We report a case of a 32 week gestational age preterm monozygotic twin neonate with a rare variant of Pentalogy of Cantrell who presented with severe respiratory distress syndrome, possible pulmonary hypoplasia, large congenital diaphragmatic hernia ...
Preethi Srinivasakumar, Ganapathy Rama, Nathan Jesse, Rogers G. Howell, Joseph Lawrence Brady, Jr., Tania Tejera Morales, Hima Maramreddy, Jenna Hogan, Graham H. Cosper, Thomas Schmelzer, Daniel A. Bambini, Andrew Schulman, Jay Kothadia   +12 more
doaj   +1 more source

Pentalogy of Cantrell: A case report of probable pentalogy of Cantrell in a full-term neonate [PDF]

Iranian Journal of Neonatology, 2021
Background: Pentalogy of Cantrell (PC) is an extremely rare congenital anomaly which was first described in 1985. The incidence of the PC has been reported to vary from 5.5-7.9 cases per million live births.
Mina Khosravifar, Homa Babaei, Nona Rahbari   +2 more
doaj   +1 more source

Prenatal diagnosis and pregnancy outcome of major structural anomalies detectable in the first trimester: A population‐based cohort study in the Netherlands

Paediatric and Perinatal Epidemiology, Volume 36, Issue 6, Page 804-814, November 2022., 2022
Abstract Background Prenatal diagnosis of several major congenital anomalies can be achieved in the first trimester of pregnancy. Objective This study investigates the timing of diagnosis and pregnancy outcome of foetuses and neonates with selected structural anomalies in the Northern Netherlands over a 10‐year period when the prenatal screening ...
Francesca Bardi, Jorieke Elisabertha Hermina Bergman, Nicole Siemensma‐Mühlenberg, Ayten Elvan‐Taşpınar, Hermien Evelien Klaaske de Walle, Marian Karolien Bakker   +5 more
wiley   +1 more source

Pentalogy of Cantrell: case report [PDF]

Medical Journal Armed Forces India, 2011
Pentalogy of Cantrell (thoracoabdominal ectopia cordis) is a rare congenital syndrome of abdominal wall defect, lower sternal defect, diaphragmatic pericardial defect, anterior diaphragmatic defect, and intracardiac abnormalities. First described by Cantrell in 1958, the syndrome occurs sporadically with variable degrees of expression.1 Less than 90 ...
Yoginder, Singh, Navneet, Magon, S, Chopra, S K, Kathpalia   +3 more
openaire   +2 more sources

NAD+ deficiency in human congenital malformations and miscarriage: A new model of pleiotropy

American Journal of Medical Genetics Part A, Volume 188, Issue 9, Page 2834-2849, September 2022., 2022
Abstract Pleiotropy is defined as the phenomenon of a single gene locus influencing two or more distinct phenotypic traits. However, nicotinamide adenine dinucleotide (NAD+) deficiency through diet alone can cause multiple or single malformations in mice.
Paul R. Mark
wiley   +1 more source

Syndromes and Disorders Associated with Omphalocele (II): OEIS Complex and Pentalogy Of Cantrell

Taiwanese Journal of Obstetrics & Gynecology, 2007
Omphalocele-exstrophy-imperforate anus-spinal defects (OEIS) complex is characterized by a combination of omphalocele, exstrophy of the bladder, an imperforate anus, and spinal defects. Pentalogy of Cantrell is characterized by a combination of a midline
Chih-Ping Chen
doaj   +1 more source

Timing of diagnosis of fetal structural abnormalities after the introduction of universal cell‐free DNA in the absence of first‐trimester anatomical screening

Prenatal Diagnosis, Volume 42, Issue 10, Page 1242-1252, September 2022., 2022
Abstract Introduction Since 2021, first‐trimester anatomical screening (FTAS) is offered in the Netherlands alongside genome‐wide cell‐free DNA (cfDNA). Previously, only second‐trimester anatomical screening (STAS) was offered. This study identifies structural abnormalities amenable to first‐trimester diagnosis detected at/after STAS in the period ...
Francesca Bardi, Anne Marie Beekhuis, Marian K. Bakker, Ayten Elvan‐Taşpınar, Caterina Maddalena Bilardo   +4 more
wiley   +1 more source

Limb body wall complex, amniotic band sequence, or new syndrome caused by mutation in IQ Motif containing K (IQCK)? [PDF]

, 2015
published_or_final_versio
Abe, Y, Adelstein, RS, Chung, BHY, Ganetzky, R, Hong, SK, Kruszka, P, Ma, X, Martinez, AF, Muenke, M, Mullikin, JC, Mutesa, L, Stevenson, RE, Uwineza, A, Zackai, EH   +13 more
core   +1 more source