#case|| Solution ||Part 1
The answer to the given question is “Marfan syndrome”
⏩Basic Intro:
⏹‘Marfan syndrome’ is a genetic disorder that results in defective connective tissue, affecting nearly every body system
⏹‘Microfibrils‘ are strong ropelike structures that provide tissue integrity & form connective tissue & the main component of microfibrils is ‘Fibrillin’
⏹In addition to being part of microfibrils, fibrillin also regulates tissue growth by sequestering or removing TGF-B (Transforming growth factor beta) which stimulate tissue growth.
⏩Pathogenesis:
⏹Marfan syndrome is an Autosomal dominant Disorder caused by mutations in a gene called FBN1 on chromosome 15
⏹The FBN1 gene encodes Fibrillin-1 protein
⏹In Marfan Syndrome, Fibrillin-1 is either dysfunctional or less abundant
⏹As a result, there are fewer functioning microfibrils in the extracellular matrix, and that means there’s less tissue integrity & elasticity
⏹TGF-B doesn’t get effectively sequestered, so excessive TGF-B signalling causing more growth
⏩Clinical Features:
⏹Skeleton system:
✅Tall stature
•Long arms & legs (Marfanoid Body Habitus)
✅Arachnodactyly
•Long fingers and toes
•‘Arachnodactyly’ in reference to ‘Long Legs of Spider’
✅Overgrowth of ribs can cause:
•Pectus excavatum (Chest sinks in)
•Pectus Carinatum (Chest points out)
✅Scoliosis (Spine has sideways curve)
✅Reduced extension of elbows (
The answer to the given question is “Marfan syndrome”
⏩Basic Intro:
⏹‘Marfan syndrome’ is a genetic disorder that results in defective connective tissue, affecting nearly every body system
⏹‘Microfibrils‘ are strong ropelike structures that provide tissue integrity & form connective tissue & the main component of microfibrils is ‘Fibrillin’
⏹In addition to being part of microfibrils, fibrillin also regulates tissue growth by sequestering or removing TGF-B (Transforming growth factor beta) which stimulate tissue growth.
⏩Pathogenesis:
⏹Marfan syndrome is an Autosomal dominant Disorder caused by mutations in a gene called FBN1 on chromosome 15
⏹The FBN1 gene encodes Fibrillin-1 protein
⏹In Marfan Syndrome, Fibrillin-1 is either dysfunctional or less abundant
⏹As a result, there are fewer functioning microfibrils in the extracellular matrix, and that means there’s less tissue integrity & elasticity
⏹TGF-B doesn’t get effectively sequestered, so excessive TGF-B signalling causing more growth
⏩Clinical Features:
⏹Skeleton system:
✅Tall stature
•Long arms & legs (Marfanoid Body Habitus)
✅Arachnodactyly
•Long fingers and toes
•‘Arachnodactyly’ in reference to ‘Long Legs of Spider’
✅Overgrowth of ribs can cause:
•Pectus excavatum (Chest sinks in)
•Pectus Carinatum (Chest points out)
✅Scoliosis (Spine has sideways curve)
✅Reduced extension of elbows (