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Increased Phenotype Severity Associated with Splice-Site Variants in a Hungarian Pediatric Neurofibromatosis 1 Cohort: A Retrospective Study.
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Department of Pediatric Dermatology, Heim Pal National Pediatric Institute, 1089 Budapest, Hungary.
Neurofibromatosis type 1 (NF1) is a complex neurocutaneous disorder caused by pathogenic variants in the gene. Although genotype-phenotype correlation studies are increasing, robust clinically relevant correlations have remained limited. We conducted a retrospective analysis of data obtained from a cohort of 204 Hungarian individuals, with a mean age of 16 years (age range: 1-33 years).
View Article and Find Full Text PDFHydrolethalus Syndrome: A Case of a Rare Congenital Disorder.
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Department of Dentistry, Faculty of Dentistry, "Vasile Goldiș" Western University of Arad, 94-96 Revolutiei Blvd., 310025 Arad, Romania.
This is a fatal case of multiple complicated congenital anomalies displaying several symptoms consistent with hydrolethalus syndrome. The newborn's phenotype is characterized by a combination of serious anatomical abnormalities such as open-book cerebral hemispheres, defective lobulation of the lungs (one lobe on the left, two on the right), a smaller right kidney, a smooth cerebral surface, and a specific keyhole-shaped defect in the skull base, primarily associated with hydrocephalus.
View Article and Find Full Text PDFHigh clinical burden of classical homocystinuria in the United States: a retrospective analysis.
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Travere Therapeutics, Inc., San Diego, CA, USA.
Background: Classical homocystinuria (HCU) is a rare genetic metabolic disorder resulting in elevated homocysteine and methionine levels. The clinical characteristics and associated complications of HCU are well documented. However, there is limited published research on the clinical burden of patients with HCU, especially stratified by total homocysteine (tHcy) levels.
View Article and Find Full Text PDFGluteus medius contracture: A case report and review of the literature.
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Department of Orthopedics, China-Japan Union Hospital of Jilin University, Changchun, Jilin Province, PR China.
Rationale: Bilateral gluteus medius contractures in adults are rare in clinical practice, with only a few cases reported. These contractures may result from repeated intramuscular injections during childhood. Understanding the clinical manifestations, diagnostic process, treatment, and outcomes can provide insights into effective management strategies.
View Article and Find Full Text PDFAberrant Insertion of the Anterior Cruciate Ligament on the Lateral Meniscus: A Case Report.
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January 2025
Department of Orthopaedics and Rehabilitation, Yale School of Medicine, New Haven, Connecticut.
Case: A 16-year-old woman presented with acute on chronic knee pain and instability following a twisting injury. The tibial insertion of the anterior cruciate ligament (ACL) was nonvisualized on magnetic resonance imaging. A cord-like ACL, originating from the lateral intercondylar notch and inserting smoothly into the anterior horn of the intact lateral meniscus, was found on arthroscopy.
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