An estimation of osteochondrodysplasia prevalence in Australian Scottish Fold cats: a retrospective study using VetCompass Data [PDF]
BMC Veterinary Research, 2023 Background All Scottish Fold cats are believed to be affected by osteochondrodysplasia, a painful degenerative joint disorder. This retrospective study aimed to estimate the prevalence of osteochondrodysplasia in Scottish Fold and Scottish Straight cats ...
Brandon D. Velie +3 more
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Osteochondrodysplasia and the c.1024G>T variant of gene in Scottish Fold cats: genetic and radiographic evaluation [PDF]
Journal of Feline Medicine and Surgery, 2023 Objectives The objectives of this study were to investigate the c.1024G>T SNP in the TRPV4 gene in Scottish Straight and Fold cats, and to evaluate the pattern of skeletal phenotype and the evolution of radiological signs of Scottish Fold ...
Stefano Sartore +5 more
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FGFR antagonists restore defective mandibular bone repair in a mouse model of osteochondrodysplasia [PDF]
Bone ResearchGain-of-function mutations in fibroblast growth factor receptor (FGFR) genes lead to chondrodysplasia and craniosynostoses. FGFR signaling has a key role in the formation and repair of the craniofacial skeleton. Here, we analyzed the impact of Fgfr2- and
Anne Morice +6 more
doaj +2 more sources
A framework to refocus the conversation around the welfare of UK purebred cats [PDF]
Animal WelfarePreviously, consideration of purebred cat welfare has focused heavily on links between specific breeds and their predispositions to disease, extreme morphology, and behavioural traits.
Claire Roberts +3 more
doaj +2 more sources
Report of a Rare Syndromic Retinal Dystrophy: Asphyxiating Thoracic Dystrophy (Jeune Syndrome) [PDF]
Türk Oftalmoloji DergisiJeune syndrome (JS), first described by Jeune as asphyxiating thoracic dystrophy, is an autosomal recessive osteochondrodysplasia with characteristic skeletal abnormalities and variable renal, hepatic, pancreatic, and ocular complications.
Batuhan Aksoy, Gülipek Tigrel
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The burden of hospital admissions for skeletal dysplasias in Sri Lanka: a population-based study [PDF]
Orphanet Journal of Rare Diseases, 2023 Background Skeletal dysplasias are a diverse group of rare disorders in the chondro-osseous tissue that can have a significant impact on patient’s functionality. The worldwide prevalence of skeletal dysplasias at birth is approximately 1:5000 births.
Yasas D. Kolambage +4 more
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Universal conditional networks (UniCoN) for multi-age embryonic cartilage segmentation with sparsely annotated data [PDF]
Scientific ReportsOsteochondrodysplasia, affecting 2–3% of newborns globally, is a group of bone and cartilage disorders that often result in head malformations, contributing to childhood morbidity and reduced quality of life.
Nishchal Sapkota +12 more
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Relevance of Extending FGFR3 Gene Analysis in Osteochondrodysplasia to Non-Coding Sequences: A Case Report [PDF]
GenesGilles Millat +2 more
exaly +2 more sources
Bone Research, 2022 A gain-of-function mutation in the fibroblast growth factor receptor 3 gene (FGFR3) results in achondroplasia (ACH), the most frequent form of dwarfism.
Ludovic Martin +16 more
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A Novel Osteochondrodysplasia With Empty Sella Associates With a TBX2 Variant
Frontiers in Endocrinology, 2022 Skeletal dysplasias comprise a heterogenous group of developmental disorders of skeletal and cartilaginous tissues. Several different forms have been described and the full spectrum of their clinical manifestations and underlying genetic causes are still
Riikka E. Mäkitie +11 more
doaj +1 more source