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Magnetic resonance imaging evaluation and nuclear receptor binding SET domain protein 1 mutation in the Sotos syndrome with attention-deficit/hyperactivity disorder.
World J Clin Cases
January 2025
Shanghai XiRong Information Science and Technology Co., Ltd, National Science and Technology Park, School of Life Sciences and Technology, Tongji University, Shanghai 200092, China.
Sotos syndrome is characterized by overgrowth features and is caused by alterations in the gene. Attention-deficit/hyperactivity disorder (ADHD) is considered a neurodevelopment and psychiatric disorder in childhood. Genetic characteristics and clinical presentation could play an important role in the diagnosis of Sotos syndrome and ADHD.
View Article and Find Full Text PDFNasolacrimal Duct Obstruction in a Patient With Sotos Syndrome.
Ophthalmic Plast Reconstr Surg
December 2024
Department of Ophthalmology, Jones Eye Institute, University of Arkansas for Medical Sciences.
Symptomatic Congenital Kyphoscoliosis Due to Concomitant Wedged Vertebra and Sotos Syndrome: A Case Report.
Cureus
October 2024
Spine Surgery, Shiga General Hospital, Shiga, JPN.
There are few reports of syndromic scoliosis accompanied by a congenital vertebral anomaly. We report a case of Sotos syndrome with a concomitant congenital wedged vertebra whose kyphoscoliosis progressed rapidly and presented with myelopathy during the growth-spurt period. A 12-year-old male suffering from Sotos syndrome with T10-wedged vertebra presented with paraparesis and urinary dysfunction.
View Article and Find Full Text PDFDeciphering Growth Patterns in Korean Children With Sotos Syndrome Through the Development of a Disease-Specific Growth Chart.
Mol Genet Genomic Med
November 2024
Department of Pediatrics, Seoul National University Children's Hospital, Seoul, Korea.
Background: Sotos syndrome (SS) is a rare disorder characterized by overgrowth, distinctive facial features, and intellectual disability that is primarily caused by NSD1 pathogenic variants or 5q35 microdeletions.
Methods: We retrospectively analyzed the clinical characteristics and 339 anthropometric measurements over an average of 4.3 years of follow-up in 57 Korean children with SS.
Aberrant Fetal Brain Sulcus Formation: A Clue to the Diagnosis of Sotos Syndrome.
Prenat Diagn
December 2024
Department of Obstetrics and Gynecology, Nanfang Hospital, Southern Medical University, Guangzhou, China.
Objective: This study aims to elucidate two distinct fetal ultrasound features associated with aberrant brain sulcus formation as potential prenatal markers for Sotos syndrome caused by mutations in the NSD1 gene.
Method: This retrospective study investigated three fetuses across two pregnancies, including a pair of monochorionic diamniotic twins, all diagnosed with Sotos syndrome via whole exome sequencing (WES). Comprehensive clinical and laboratory data were collected and analyzed.
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