Results 91 to 100 of about 341,333 (296)
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Marden–Walker syndrome (MWS; OMIM 248700) is an extremely rare congenital disorder characterized by multiple joint contractures, craniofacial dysmorphism, neurological abnormalities, and multisystem involvement. Although historically diagnosed on clinical grounds, only a few cases have been molecularly confirmed.
Guilherme Sotto Battiston +35 more
wiley +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Homozygous achondroplasia is widely considered perinatal lethal by the medical community. In this case series, we report two children from a single family with longer‐term survival. One child lived for 17 months and the other was 60 months at the time of publication.
Hannah Singerline +3 more
wiley +1 more source
Impact of Rapid Exome Sequencing on Pediatric Patients With Cardiomyopathy and Acute Heart Failure
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Few studies describe the impact of rapid exome sequencing (ES) on pediatric cardiomyopathy in urgent clinical settings. Here, we retrospectively report the impact of rapid singleton ES in pediatric patients presented with acute heart failure and isolated cardiomyopathy or myocarditis, between 2021 and 2023 at a single tertiary care center.
Tameemi Abdalla Moady +10 more
wiley +1 more source
Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...
Yiyao Chen +13 more
wiley +1 more source
Classification of Fetal Congenital Heart Disease by Prenatal Ultrasound and Its Diagnostic Value
International Journal of General MedicineChuansheng Feng, Mohan Wang, Yizhen Ji, Yasong Xu, Shiyu Sun, Li Sun, Qichang Wu Prenatal Diagnosis Center, Department of Obstetrics and Gynecology, Women and Children’s Hospital, School of Medicine, Xiamen University, Xiamen, Fujian, 361000, People’s ...
Feng C +6 more
doaj
Australian Journal of Social Issues, EarlyView.ABSTRACT It is the priority of Aboriginal and Torres Strait Islander communities, and Australian governments, to provide infants with enriching environments in which they may thrive. This is particularly critical during the perinatal period. Yet, an increasing number of notifications and interventions by child protection authorities are occurring in ...
Neve Mucabel‐Bue +11 more
wiley +1 more source
Incidence and Prevalence of Congenital Myopathies ‐ A Population‐Based Study From Western Sweden
Annals of Neurology, EarlyView.Objective Congenital myopathies are a group of rare genetic muscle disorders. Previous studies have estimated point prevalences which only include surviving individuals. Our aim was to perform an epidemiological study with strict inclusion criteria, using modern diagnostic technology to present both incidences and prevalences, and to describe the ...
Eva Michael +5 more
wiley +1 more source
Compound Heterozygosity in PGAP3 Causing Mabry Syndrome in a South African Patient
American Journal of Medical Genetics Part A, EarlyView.
Carli Loubser, Shahida Moosa
wiley +1 more source
Annals of Neurology, EarlyView.Objective Antiseizure medication (ASM) use during pregnancy has increased over the past decade. However, evidence linking prenatal ASM exposure to neurodevelopmental disorders (NDDs) in offspring remains inconsistent. This study evaluated whether prenatal ASM exposure increases the risk of NDDs in children.
Odile Sheehy +13 more
wiley +1 more source