Neonatal osteosclerotic bone dysplasia (Raine syndrome)
Indian Pediatrics Case Reports, 2021 Background: Raine syndrome is a rare autosomal recessive neonatal osteosclerotic bone dysplasia caused due to mutations in the FAM20C gene. It has an early and aggressive onset which often results in death in the first few weeks of life, although there ...
Tarun Kumar Girigiri +3 more
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Fibroblast growth factor receptor signaling in hereditary and neoplastic disease: biologic and clinical implications. [PDF]
, 2015 Fibroblast growth factors (FGFs) and their receptors (FGFRs) are transmembrane growth factor receptors with wide tissue distribution. FGF/FGFR signaling is involved in neoplastic behavior and also development, differentiation, growth, and survival.
Helsten, Teresa +2 more
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Thanatophoric dysplasia- a rare cause of stillbirth and perinatal mortality: a case report [PDF]
, 2021 Lethal skeletal dysplasia is estimated to occur in 0.95 per 10,000 deliveries. Thanatophoric dysplasia affects about 1in 25000 to 50000 births. The term thanatophoric is Greek word for “death bearing”.
Agrawal, Priti +2 more
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P354: Vosoritide as a targeted therapy for FGFR3-related thanatophoric dysplasia
Genetics in Medicine OpenBenjamin Cocanougher +7 more
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Incremental yield of prenatal exome sequencing in fetuses with skeletal system abnormalities: A systematic review and meta-analysis. [PDF]
Acta Obstet Gynecol ScandOur study suggests that exome sequencing adds approximately 60% of the diagnostic yield in fetuses with skeletal abnormalities reported in previous literature. The dysplasia phenotypes had a higher incremental yield, whereas the dysostoses group according to this study had a relatively lower yield, especially in the isolated dysostoses group.
Wang Y +6 more
europepmc +2 more sources
Skeletal Dysplasia: A Case Report
Diagnostics, 2023 This paper presents a rare case of fetal hydrops detected at just 23 weeks of gestation in a 22-year-old woman’s first pregnancy. The fetal ultrasound revealed severe skeletal anomalies, craniofacial deformities, and thoracic abnormalities, suggesting a ...
Nicolae Gică +6 more
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K-Ras and β-catenin mutations cooperate with Fgfr3 mutations in mice to promote tumorigenesis in the skin and lung, but not in the bladder [PDF]
, 2011 The human fibroblast growth factor receptor 3 (FGFR3) gene is frequently mutated in superficial urothelial cell carcinoma (UCC). To test the functional significance of FGFR3 activating mutations as a ‘driver’ of UCC, we targeted the expression of mutated
Ahmad, I. +8 more
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Analysis of a Series of 26 Cases With Prenatal Skeletal Dysplasia via Multiplatform Genetic Detection. [PDF]
Mol Genet Genomic MedABSTRACT Background Skeletal dysplasia (SD) represents a series of highly heterogeneous congenital genetic diseases affecting the human skeletal system. Refined genetic diagnosis is helpful for the accurate diagnosis and prognosis evaluation of SDs.
Cui LM +12 more
europepmc +2 more sources
THANATOPHORIC DYSPLASIA: LITERATURE REVIEW AND CLINICAL CASE IN MONOCHORIC DIAMNIOTIC TWINS
Неонатологія, хірургія та перинатальна медицина, 2023 Thanatophoric dysplasia, TD (OMIM: 187600, 87601) belongs to the group of FGFR3 chondrodysplasias and is divided into types I and II. The incidence of TD is approximately 1:20,000-50,000 newborns. TD is usually caused by pathogenic variants in the FGFR3
І. Ластівка +5 more
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Fibroblast growth factor signaling in skeletal development and disease [PDF]
, 2015 Fibroblast growth factor (FGF) signaling pathways are essential regulators of vertebrate skeletal development. FGF signaling regulates development of the limb bud and formation of the mesenchymal condensation and has key roles in regulating ...
Marie, Pierre J, Ornitz, David M
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