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Genetic analysis of partial duplication of the long arm of chromosome 16.
BMC Med Genomics
December 2024
Department of Pediatrics, Sichuan Provincial Woman's and Children's Hospital, The Affiliated Women's and Children's Hospital of Chengdu Medical College, Chengdu, China.
Background: Pure partial trisomy 16q12.1q22.1 is a rare chromosome copy number variant (CNV).
View Article and Find Full Text PDFCan we diagnose aortic arch obstruction in a fetus with an atrioventricular septal defect?
Cardiol Young
October 2024
Department of Pediatrics, Division of Pediatric Cardiology, UT Southwestern Medical Center, Dallas, TX, USA.
Background: Aortic arch obstruction and/or coarctation of aorta is uncommon (5-20%) in balanced atrioventricular septal defects. Although technically challenging, prenatal diagnosis of aortic arch obstruction in atrioventricular septal defect is critical for delivery planning and improves prenatal counselling regarding the timing of cardiac surgery. We sought to identify prenatal predictors of coarctation of aorta in atrioventricular septal defect.
View Article and Find Full Text PDFOutcomes of open reduction for hip dislocations in children with connective tissue disorders.
J Child Orthop
December 2024
Department of Orthopaedics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Purpose: While children with hypermobility and/or ligamentous laxity due to coexisting connective tissue disorders might be expected to have worse outcomes after open reduction for hip dislocations, there is minimal prior research on this topic.
Methods: All open reduction surgeries for hip dislocations performed at a single urban, tertiary-care children's hospital from 2009 to 2023 were reviewed retrospectively. Those with connective tissue disorders secondary to a diagnosed syndrome or genetic disorder were included.
Musculoskeletal Issues in Children and Adolescents: Genetic Musculoskeletal Disorders.
FP Essent
September 2024
USUHS University Family Health Center, Uniformed Services University of the Health Sciences, Bethesda, Maryland.
Article Synopsis
- - Duchenne muscular dystrophy (DMD) is an X-linked genetic disorder primarily causing progressive muscle weakness, treated mainly with glucocorticoids and physical therapy.
- - Joint hypermobility can occur alone or in connection with conditions like Ehlers-Danlos syndrome, which may lead to cardiovascular issues, while osteogenesis imperfecta involves fragile bones prone to fractures.
- - Down syndrome (trisomy 21) is the most common chromosomal abnormality, and while routine imaging for atlantoaxial instability isn't recommended in asymptomatic children, careful evaluation is necessary for sports participation; achondroplasia, resulting in disproportionate short stature and other skeletal features, requires education for safe handling.
Sonographic findings of transient marked proximal bowel dilatation in a growth-restricted fetus at 35 weeks' gestation.
Radiol Case Rep
May 2024
The Division of Maternal Fetal Medicine, The Department of Obstetrics and Gynecology, and the Department of Radiology State University of New York (SUNY), Downstate Health Sciences University, Brooklyn, NY, USA.
Etiologies underlying the relatively infrequent third-trimester sonographic depiction of dilated fetal bowel include (functional or mechanical) bowel obstruction, intestinal atresia, volvulus, annular pancreas, intestinal malrotation, intussusception, gastrointestinal duplications, cystic fibrosis-associated meconium ileus, congenital chloride diarrhea, microvillus inclusion disease, intestinal neuronal dysplasia, and meconium plug syndrome. Fetal bowel obstruction may be associated with aneuploidy (mostly Trisomy 21 in association with esophageal or duodenal atresia), and rarely select microduplications or deletions. We present unusual sonographic findings associated with transient marked proximal fetal bowel dilatation in association with concurrent development of oligohydramnios, in a growth-restricted fetus at 35 weeks' gestation.
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