Explore the latest in congenital defects from The JAMA Network, including advances in management of children with defects of the heart, head and neck, and more.
This study tested the effectiveness of a “blast” short message service text message to facilitate enrollment with a visiting surgical team in Zimbabwe.
This Arts and Medicine essay discusses Heart Narratives, an art installation in the Great Ormond Street Hospital and Institute of Child Health in London that visualizes the illness narratives of children with congenital heart disease.
This Clinical Evidence Synopsis summarizes a Cochrane review summarizing associations between maternal use of antiepileptic drugs during pregnancy and major congenital malformations in children.
This case series examines whether hypoglossal nerve stimulation is safe and effective in children with Down syndrome and obstructive sleep apnea.
This case series evaluates the presence of Zika virus antigens and describes the associated ocular histopathologic features of 4 cases of congenital Zika syndrome.
This study evaluates the natural history of von Hippel–Lindau disease–associated pancreatic lesions to determine the factors associated with pancreatic neuroendocrine tumor phenotype and prognosis.
This Surgical Pearl describes the technique of nostril sill repair to restore the first auxiliary tension line group in patients with cleft lip.
This study presents a genetic locus for intracranial arachnoid cysts.
This study analyzes clinically indicated arterial blood gas values from patients with cyanotic congenital heart disease to determine whether oxyhemoglobin saturation or arterial oxygen tension provides a better measure of oxygenation.
A 4-year-old-girl presented with lower abdominal pain and nonbloody, nonbilious emesis. What is your diagnosis?
This case series quantifies the microstructural changes of the retina in infants with congenital Zika syndrome following Zika exposure in utero.
This report describes treatment used to improve focal dermal hypoplasia by using ablative fractional laser resurfacing and characterizes the specific ratio of collagen types associated with observed clinical changes in a patient with Goltz syndrome.
A 5-year-old girl was referred for evaluation of blepharoptosis of the left eye. There was notable asymmetry in her eyelid measurements and elevation of her left upper eyelid with lateral jaw thrust. What would you do next?
A man in his late 20s with a history of Alport syndrome presented on referral for a bilateral retina problem after experiencing right-sided herpes zoster ophthalmicus. What would you do next?
This study uses the Velopharyngeal Insufficiency Effects on Life Outcomes instrument to assess the association of improved speech with quality of life in patients who underwent secondary speech surgery.
This analysis of patient medical records and skin photography describes the clinical characteristics of connective tissue nevi on the trunk and extremities of patients with tuberous sclerosis complex.
This article discusses the current options available for treatment of infantile hemangiomas of the nose.
This population-based study analyzes the magnetic resonance imaging brain scans of participants in the Mayo Clinic Study of Aging to determine the prevalence of cerebral cavernous malformation in adults aged 50 to 89 years.
This medical record review proposes guidelines for neurologic evaluation and imaging techniques to identify or rule out neuromuscular dysfunction in children with laryngeal cleft.