This child presented with intellectual disability and ejection systolic murmur in the pulmonary area. He also had cubitus valgus & webbed neck. Differences from Turner syndrome are all of the following except:
**Question:** This child presented with intellectual disability and ejection systolic murmur in the pulmonary area. He also had cubitus valgus & webbed neck. Differences from Turner syndrome are all of the following except:
A. Intellectual disability
B. Ejection systolic murmur in the pulmonary area
C. Cubitus valgus
D. Webbed neck
**Core Concept:** Turner syndrome is a genetic disorder characterized by partial or complete absence of one X chromosome in females. Clinical features include short stature, webbed neck, gonad dysgenesis, and heart defects like coarctation of aorta, pulmonary stenosis, and endocardial cushion defects. Intellectual disability and cubitus valgus are rarely seen in Turner syndrome.
**Why the Correct Answer is Right:** The correct answer is **D. Webbed neck** because webbed neck is a common feature of Turner syndrome. Intelligent disability and ejection systolic murmur in the pulmonary area are rarely seen in Turner syndrome. **Cubitus valgus**, a deformity of the upper arm, is also more common in Turner syndrome than in the given child with intellectual disability and systolic ejection murmur in the pulmonary area.
**Why Each Wrong Option is Incorrect:**
A. Intellectual disability: Although some females with Turner syndrome may have mild intellectual disability, it is not a unique feature of this condition and can be seen in other genetic disorders and diseases.
B. Ejection systolic murmur in the pulmonary area: This murmur is a common feature of Turner syndrome and is present in around 10-20% of cases. In contrast, the child with the given presentation is more likely to have a congenital heart defect, such as coarctation of aorta, pulmonary stenosis, or endocardial cushion defects, which are more typical of heart defects associated with Turner syndrome.
C. Cubitus valgus: As mentioned earlier, cubitus valgus is more common in Turner syndrome than in the presented child with intellectual disability and systolic ejection murmur in the pulmonary area.
D. Webbed neck: As mentioned earlier, webbed neck is a common feature of Turner syndrome and is less likely to be seen in the presented child with intellectual disability and systolic ejection murmur in the pulmonary area.
**Clinical Pearl**: In the context of clinical diagnosis, it is essential to consider the presence or absence of specific features to narrow down the possibilities and reach an accurate diagnosis. In this case, the child's features of intellectual disability and systolic ejection murmur in the pulmonary area help to differentiate Turner syndrome from other conditions, and exclude other possibilities like Klinefelter syndrome or 45,X/47,XXY karyotype.