Webbing of neck, sho stature, increased carrying angle, low posterior hair line, primary amenorrhea and sho fouh metacarpal are characteristics of: AIIMS 09
**Question:** Webbing of neck, short stature, increased carrying angle, low posterior hairline, primary amenorrhea, and short fourth metacarpal are characteristics of: AIIMS 09
**Correct Answer:** .
**Core Concept:** Marfan's Syndrome
Marfan's syndrome is a genetic disorder characterized by a spectrum of abnormalities affecting the connective tissue, primarily involving the cardiovascular, skeletal, and ocular systems. It is caused by mutations in the FBN1 gene, which encodes the fibrillin-1 protein, a component of extracellular matrix.
**Why the Correct Answer is Right:**
Marfan's syndrome is a result of mutations in the FBN1 gene, which leads to abnormalities in the production of fibrillin-1 protein. This protein is essential for the normal functioning of connective tissue, particularly in the cardiovascular, skeletal, and ocular systems.
**Why Each Wrong Option is Incorrect:**
A. Webbing of neck (necklace deformity): This is a feature of Marfan's syndrome, not the other options.
B. Short stature: While short stature may be present in Marfan's syndrome, it is not exclusive to this condition and can be seen in other conditions as well.
C. Increased carrying angle: This feature is not specific to Marfan's syndrome and can be seen in other conditions as well.
D. Short fourth metacarpal: This is a feature of Marfan's syndrome, but it is not exclusive to this condition and can be seen in other conditions as well.
**Clinical Pearl:**
Primary amenorrhea is not a core feature of Marfan's syndrome, which primarily affects the cardiovascular, skeletal, and ocular systems. The presence of primary amenorrhea is more likely due to other underlying causes or conditions.
**Correct Answer:**
**Core Concept:** Marfan's syndrome is a connective tissue disorder caused by mutations in the FBN1 gene, leading to abnormalities in fibrillin-1 protein production.
**Why the Correct Answer is Right:**
Marfan's syndrome affects the cardiovascular, skeletal, and ocular systems due to the involvement of fibrillin-1 protein in the structure and elasticity of blood vessels, bones, and lenses. These abnormalities lead to the characteristic features of Marfan's syndrome.
**Why Each Wrong Option is Incorrect:**
A. Webbing of neck (necklace deformity): This is a feature of Marfan's syndrome but is not exclusive to this condition and can be seen in other conditions as well.
B. Short stature: While short stature may be present in Marfan's syndrome, it is not exclusive to this condition and can be seen in other conditions as well.
C. Increased carrying angle: This feature is not specific to Marfan's syndrome and can be observed in other conditions as well.
D. Short fourth metacarpal: This is a feature of Marfan's syndrome but is not exclusive to this condition and can be seen in other conditions as well.
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