Results 41 to 50 of about 11,948 (181)
Prenatal Diagnosis, EarlyView.ABSTRACT Objective Prenatal sequencing of fetuses with abnormalities detected on imaging is expanding globally. Debate continues over whether variants of uncertain significance (VUS) should be reported prenatally, with some recent national position statements opposing this.
A. Gibbs +13 more
wiley +1 more source
Prenatal Diagnosis, EarlyView.ABSTRACT Objective To review the published literature on prenatal findings of COL2A1‐related SEDC, summarizing reported imaging and molecular variants, and to describe two additional prenatal cases evaluated at a tertiary referral center. Method A narrative review with a systematic search strategy was conducted to analyze prenatal imaging findings ...
López‐Rodríguez Larissa +10 more
wiley +1 more source
Epidemiology of congenital polydactyly and syndactyly in Hunan Province, China
BMC Pregnancy and ChildbirthObjective To describe the prevalence and epidemiology of congenital polydactyly and syndactyly in Hunan Province, China, 2016–2020. Methods Data were obtained from the Birth Defects Surveillance System in Hunan Province, China, 2016–2020.
Xu Zhou +10 more
doaj +1 more source
Pediatric Investigation, EarlyView.Monogenic and syndromic obesity in children often arises from defects in the leptin–melanocortin pathway. Understanding these rare genetic causes not only clarifies mechanisms of appetite regulation but also enables precision therapies, offering hope beyond lifestyle interventions.
Hadel Khalil +2 more
wiley +1 more source
Taiwanese Journal of Obstetrics & Gynecology, 2018 Objective: We present prenatal diagnosis of a familial 1q21.1-q21.2 microdeletion in a fetus with polydactyly of left foot on prenatal ultrasound. Case report: A 30-year-old, gravida 2, para 1, woman underwent amniocentesis at 22 weeks of gestation ...
Chih-Ping Chen +10 more
doaj +1 more source
Andrology, EarlyView.ABSTRACT Sex chromosome aneuploidies represent a heterogeneous group of chromosomal conditions, in which phenotypic complexity generally increases with the number of supernumerary sex chromosomes. While Turner syndrome and sex chromosome trisomies are relatively well characterized, less is known about congenital malformations in sex chromosome ...
Anna Colding +3 more
wiley +1 more source
Sturge-Weber syndrome coexisting with polydactyly: a case report
BMC Ophthalmology, 2021 Background Sturge-Weber syndrome (SWS) is a sporadic congenital disorder, characterized by unilateral facial nevus flammeus associated with ipsilateral glaucoma, choroidal angioma and leptomeningeal hemangiomas.
Hongxi Wang +3 more
doaj +1 more source
Acta Obstetricia et Gynecologica Scandinavica, EarlyView.Prenatal exome sequencing significantly improves diagnostic yield over chromosomal microarray analysis for fetal CNS abnormalities, with a diagnostic yield of 16% in our cohort and 27% in the meta‐analysis. Diagnostic yields vary across different phenotypes. Abstract Introduction Fetal central nervous system (CNS) abnormalities have diverse etiologies,
Jia Yao +5 more
wiley +1 more source
Journal of Ayurveda and Integrative Medicine, 2013 Polydactyly is a most common congenital hand defects in which the hand has one or more extra fingers, commonly seen postaxial, that is, on the small finger side.
Amarprakash P Dwivedi
doaj +1 more source
Setmelanotide in Bardet‐Biedl Syndrome: A Case Report
Pediatric Dermatology, EarlyView.ABSTRACT Setmelanotide is a melanocortin‐4‐receptor agonist used for the treatment of hyperphagia in the genetic obesity syndrome Bardet‐Biedl. Presented is a case of diffuse hyperpigmentation in a patient treated with setmelanotide, which represents the most common side effect of this medication.
Shelby Smith +2 more
wiley +1 more source