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Prenatal diagnosis of clinodactyly and its association with genetic syndromes: A case report.
Case Rep Womens Health
December 2024
Department of Obstetrics and Gynecology, University Hospital of Ioannina, Ioannina, Greece.
A curvature of a finger that bends inwards relative to the other fingers is a common observation during prenatal screening. When the angulation exceeds 10 degrees, it is known as "clinodactyly" and could suggest a variety of underlying issues. Even though it usually remains unnoticed during pregnancy, it may be a sign of serious fetal disease.
View Article and Find Full Text PDFMutation spectra and genotype‑phenotype analysis of congenital hypothyroidism in a neonatal population.
Biomed Rep
February 2025
Newborn Screening Center, Foshan Women and Children Hospital, Foshan, Guangdong 528000, P.R. China.
Congenital hypothyroidism (CH) is a common neonatal endocrine disorder that is characterized by irreversible neurodevelopmental and growth retardation due to insufficient biosynthesis of thyroid hormones at birth. Determining the causative genetic variants in infants is important for neonatal management. It was aimed to evaluate the variant frequencies and spectrum of CH in the neonatal population of Foshan, China.
View Article and Find Full Text PDFCase report: Duplication of the gene is a novel cause of nesidioblastosis: evidence from a case with Silver-Russell syndrome-like phenotype related to chromosome 7.
Front Endocrinol (Lausanne)
December 2024
Medical Research Institute KITANO HOSPITAL, PIIF Tazuke-kofukai, Osaka, Japan.
Silver-Russell syndrome (SRS) is a syndrome characterized by prenatal and postnatal growth retardation, facial features, and body asymmetry. SRS is often complicated with hypoglycemia, whose etiology is unclear. We describe the clinical course of 25-year-old man with hypoglycemia.
View Article and Find Full Text PDFIndications of Amniocentesis and its Early and Late Complications.
Adv Biomed Res
October 2024
Department of Obstetrics and Gynecology, Faculty of Medicine, Kurdistan University of Medical Sciences, Sanandaj, Iran.
Background: Currently, it is recommended to arrange screening for all women who are referred for prenatal care before the 20 week of gestation. Congenital and genetic diseases lead to disability and death in 3% of babies. Prenatal diagnosis is the only way to prevent the birth of babies with genetic disorders.
View Article and Find Full Text PDFFetal Alcohol Spectrum Disorder and Pediatric Neurology: Are We Missing the Connection? A Scoping Review.
J Child Neurol
December 2024
Harley French Medical Library, University of North Dakota School of Medicine and Health Sciences, Grand Forks, ND, USA.
Introduction: Pediatric neurology provides care for children with complex developmental disorders with environmental, genetic, metabolic, and teratogenic etiologies. Common neurodevelopmental conditions include attention-deficit hyperactivity disorder (ADHD), and autism spectrum disorder. However, only minimal attention from pediatric neurology journals has been devoted to fetal alcohol spectrum disorder.
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