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thanatophoric dysplasia/sordità
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4 risultati
Histopathology of the temporal bones in thanatophoric dysplasia.
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The pathological findings of temporal bone in two cases of thanatophoric dysplasia were reported. Thanatophoric dysplasia is classified into type 1 and type 2, each of which has been reported to show specific clinical and radiographic-findings. The present study revealed that each type also showed
Clinical and biochemical findings of a patient with thanatophoric dysplasia type I: additional finding of dicarboxylic aciduria.
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OBJECTIVE
A long-surviving thanatophoric dysplasia type I patient to age of 6 years is presented.
CONCLUSIONS
Molecular studies revealed a heterozygous point mutation, S249C in the fibroblast growth factor receptor 3 gene. Most of the clinical course was similar to previous reports, including
Activating Fgfr3 Y367C mutation causes hearing loss and inner ear defect in a mouse model of chondrodysplasia.
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Fibroblast growth factor receptor 3 (FGFR3) is a key regulator of skeletal development and activating mutations in FGFR3 cause skeletal dysplasias, including hypochondroplasia, achondroplasia and thanatophoric dysplasia. The introduction of the Y367C mutation corresponding to the human Y373C
Osteogenesis Imperfecta
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Osteogenesis imperfecta (OI, or Brittle Bone Disease) is a clinically and genetically heterogeneous group of heritable disorders of connective tissue. The incidence of forms recognizable at birth is 1:10-20,000. The hallmark feature of OI is bone fragility, with susceptibility to fracture from
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