Explore the latest in congenital defects, including advances in management of children with defects of the heart, head and neck, and more.
A 35-year-old female patient with hypothyroidism and Ehler-Danlos syndrome presents with fatigue, abdominal distension, and dyspnea. What is your diagnosis?
This diagnostic study of individuals in Sweden born between 2005 and 2023 assesses the performance of blood biomarker testing for early detection of high-risk congenital heart disease.
This cohort study aimed to determine whether nevi in patients with RASopathies, including cardiofaciocutaneous syndrome and Costello syndromes, have distinct features observed from dermoscopy photographs.
This randomized clinical trial investigates the magnitude of the effect of maternal progesterone therapy on neurodevelopment for fetuses with congenital heart defects (CHDs).
This cohort study investigates nail abnormality prevalence among patients with (BRCA1-associated protein) BAP1 tumor predisposition syndrome.
This cohort study of US patients who are pregnant examines factors associated with health care use and costs during pregnancy in those with vs without congenital heart disease.
This cross-sectional study evaluates US trends in gastroschisis incidence and maternal-infant characteristics and county-level atrazine use associated with gastroschisis.
This cohort study compares long-term cognitive outcomes of school-age children with sagittal craniosynostosis who had undergone either endoscopic surgery or open calvarial vault surgery.
This Viewpoint discusses the impact of sinus node dysfunction and escape junctional rhythm associated with the Fontan procedure on patient outcomes.
A 24-year-old man presented with progressive gait instability, marked spinal cord atrophy, and dental radiography showing the absence of several elements, microdontia, and taurodontia. What is your diagnosis?
This case report describes a diagnosis of morning glory syndrome in a 2-week-old infant who presented with divergent strabismus, cleft lip, and hypertelorism.
This case report discusses a diagnosis of persistent hyperplastic primary vitreous presenting as leukocoria in a boy aged 50 days.
This cohort study examines whether occlusion therapy in children treated for unilateral congenital cataract with poor visual outcomes is negatively associated with child functioning and/or parenting stress.
This case report describes an 8-year-old girl who received oral sirolimus as an adjuvant therapy for pulse dye laser of her port-wine stain and as an off-label treatment of exudative retinal detachment secondary to diffuse choroidal hemangioma.
This case series examines the improvement in port-wine birthmark clearance from before to after once-weekly pulsed dye laser therapy in patients younger than 6 months.
This cross-sectional study investigates perioperative oxygen saturation differences in Black and White infants with single ventricles undergoing stage 1 palliation.
This cohort study examines whether hypoplastic pitted amelogenesis imperfecta is a feature of Kindler epidermolysis bullosa, a genetic skin-blistering disease associated with recessive inherited pathogenic variants in FERMT1, which encodes kindlin-1.
This cohort study investigates the risk of major congenital malformations associated with antiseizure medication (ASM) monotherapy in the offspring of mothers taking ASMs during pregnancy.
This comparative effectiveness study explored whether exposure to generative artificial intelligence (AI) images was associated with improved recognition of Noonan and Kabuki syndromes among pediatric residents.
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