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COL9A1-related disorder with pectus carinatum, without epiphyseal dysplasia: case report and review of literature.
Skeletal Radiol
December 2024
Department of Clinical Genomics, Mayo Clinic, 13400 East Shea Blvd, Scottsdale, AZ, 85259, USA.
COL9A1 encodes the alpha-1 chain of type IX collagen heterotrimer, which is a vital component of collagen fibrils in hyaline cartilage. There are preliminary lines of evidence suggesting that COL9A1 mutations may be associated with autosomal dominant multiple epiphyseal dysplasia (MED), a disorder affecting the epiphysis of long bones. With only 2 reported cases (both from the same family) of MED in autosomal dominant COL9A1-related disorders (MIM 614135) in the clinical scientific literature hitherto, the phenotype is poorly understood at present.
View Article and Find Full Text PDFPiezogenic papules.
Med Ultrason
June 2024
Department of Radiology, Université catholique de Louvain, CHU UCL Namur, Yvoir, Belgium.
Case report: further delineation of -related Ehlers-Danlos Syndrome (classical-like EDS type 2) in an additional patient and comprehensive clinical and molecular review of the literature.
Front Genet
May 2023
Center for Medical Genetics, Shinshu University Hospital, Matsumoto, Japan.
The Ehlers-Danlos Syndromes (EDS), a group of hereditary connective tissue disorders, were classified into 13 subtypes in the 2017 International Classification. Recently, a new subtype of EDS called classical-like EDS type 2 (clEDS2), which is caused by biallelic variants in the adipocyte enhancer binding protein 1 () gene, was identified. We describe the 11th patient (9th family) with clEDS2, who was complicated by a critical vascular event (superior mesenteric artery aneurysm and rupture).
View Article and Find Full Text PDFPediatric joint hypermobility: a diagnostic framework and narrative review.
Orphanet J Rare Dis
May 2023
Macquarie University, 75 Talavera Rd, Sydney, NSW, 2109, Australia.
Background: Hypermobile Ehlers-Danlos syndrome (hEDS) and hypermobility spectrum disorders (HSD) are debilitating conditions. Diagnosis is currently clinical in the absence of biomarkers, and criteria developed for adults are difficult to use in children and biologically immature adolescents. Generalized joint hypermobility (GJH) is a prerequisite for hEDS and generalized HSD.
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