Results 41 to 50 of about 165,931,331 (176)
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 +25 more
wiley +1 more source
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 +5 more
wiley +1 more source
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
Incomplete pentalogy of Cantrell: a case report [PDF]
, 2018 Pentalogy of Cantrell (PC) is a rare congenital anomaly characterized by a defect in the lower sternum, anterior diaphragm, and anterior abdominal wall; ectopia cordis; and congenital heart disease.
Shenoy, Heera T. +3 more
core +1 more source
Partial Ectopia Cordis: A Case Report [PDF]
Iranian Journal of Neonatology, 2017 Background: One-third of all major congenital anomalies are Congenital heart disease (CHD) and Reported CHD prevalence increased over time and in Asian countries is more than western countries.
Reza Saeidi +5 more
doaj +1 more source
Astrocyte, 2015 Pentalogy of Cantrell is a rare, congenital disorder characterized by lower sternal defects, diaphragmatic defect, pericardial defect, supraumbilical abdominal wall abnormalities, and/or intracardiac defects. The collective defects result from failure of either differentiation or migration of mesenchymal or mesodermal structures during the embryonic ...
Amy J, Jnah +2 more
openaire +3 more sources
Assessment of Pentalogy of Cantrell using 3D Multidetector Computed Tomography [PDF]
, 2009 A 7-month-old white female with Pentalogy of Cantrell was imaged using 64 slice multidetector computed tomography (MDCT) with 3D mapping to better determine the extent of cardiac, thoracic, and abdominal malformations.
Vogel-Claussen, Jens +3 more
core +1 more source
Prenatal Diagnosis of Cantrell’s Pentalogy Associated with Agenesis of Left Limb in a Twin Pregnancy
Case Reports in Obstetrics and Gynecology, 2014 Pentalogy of Cantrell is a rare malformation described in the literature. We report a case of pentalogy of Cantrell associated with left limb deficiency in a twin pregnancy. The fetus with multiple anomalies revealed kyphosis, ectopia cordis, and a large
Yigit Cakiroglu +5 more
doaj +1 more source
Pentalogy of Cantrell or Cantrell Syndrome
Journal of Neonatal Surgery, 2019 Please see ...
Muhammad Umar Nisar +5 more
openaire +2 more sources
Unexpected Findings of Regulatory Factor X6 Gene Mutation and Severe Hepatic Macrovesicular Steatosis in a Neonate with Congenital Left Ventricle Diverticulum: A Case Report [PDF]
Iranian Journal of Medical Sciences, 2023 Herein we present a case of a neonate with congenital left ventricular diverticulum (LVD), a rare anomaly, with an unusual course and unexpected findings.
Mohammad Reza Edraki +4 more
doaj +1 more source