#case|| Solution ||Part 1

The answer to the given question is “Marfan syndrome”


⏩Clinical Features:

⏹Skeleton system:

✅Tall stature

•Long arms & legs (Marfanoid Body Habitus)

✅Arachnodactyly

✅Overgrowth of ribs can cause:

•Pectus excavatum (Chest sinks in)
•Pectus Carinatum (Chest points out)

✅Flexible joints

⏹Palate:

✅High arched
✅Narrow, that crowds the teeth

⏹Eyes

✅Dislocation of Lens (Usually upwards direction)

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#case || Solution || Last part

The answer to the given question is “Marfan syndrome”

Marfan syndrome is a rare connective tissue disorder affecting approximately 1 in 5000 to 1 in 10,000 people

⏩The above video shows:

✅Sign 1: Arachnodactyly

✅Sign 2: Thumb sign (Steinberg's sign)

✅Sign 3: Wrist sign (Walker-Murdoch sign)

✅Sign 4: Hyper-mobile joints


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Identify the disease based on the symptoms and examination reports 🧐

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Comment in the box below⬇️⬇️

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case || Solution|| Part 1

@medic_altimesMT

The answer to the given question is “Osteogenesis imperfecta (OI)”

The following may be noted:

⏩‘Osteogenesis imperfecta (OI)’ also known as “Brittle Bone disease” is the most common inherited disorder of connective tissue

⏩Caused by deficiencies in the synthesis of type I collagen

⏩Usually results from Autosomal Dominant mutations in the genes that encode the α1 and α2 chains of type I collagen


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