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Question

Which one of the following is $not$ a feature of Kartagener's syndrome ?

The correct answer is
Pancreatic insufficiency

Kartagener's Syndrome Features Explained

Kartagener's syndrome is a specific genetic disorder, a subtype of Primary Ciliary Dyskinesia (PCD). It affects the function of cilia, leading to a characteristic set of symptoms.

Core Components of Kartagener's Syndrome

The syndrome is primarily defined by the triad of:

  • Ciliary dyskinesia: The underlying defect where cilia cannot move properly. This impacts mucus clearance in the respiratory tract and other organs.
  • Situs inversus: A condition where the left-right arrangement of internal organs is reversed or mirrored. For example, the heart might be on the right side of the chest.
  • Chronic sinopulmonary infections: Due to impaired mucus clearance from ciliary dyskinesia, individuals often suffer from recurrent infections in the sinuses, ears, and lungs. This frequently leads to conditions like:
    • Bronchiectasis: Permanent damage and widening of the airways, making them prone to infection.

Analyzing the Options

Based on the known features:

  • Bronchiectasis: Directly linked to chronic sinopulmonary infections caused by ciliary dyskinesia. This is a feature.
  • Ciliary dyskinesia: The fundamental cause of the syndrome. This is a feature.
  • Pancreatic insufficiency: While certain genetic conditions can affect multiple organs, significant pancreatic insufficiency is not a defining or typical characteristic of Kartagener's syndrome.
  • Situs inversus: One of the three core components of the classic triad. This is a feature.

Identifying the Non-Feature

The option that does not align with the typical presentation of Kartagener's syndrome is Pancreatic insufficiency.

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Important Questions from Congenital Disorders

  1. To prevent recurrence, expectant mothers with a previous fetus with neural tube defect should receive folic acid daily at the dose of :
  2. Consider the following statements regarding non-invasive prenatal screening (NIPS) for screening high risk pregnancies for aneuploidies: 

    1. It is carried out on maternal blood. 

    2. It is done before 10 weeks gestation. 

    3. It has a negative predictive value of about 98%. 

    4. Invasive testing is needed for confirmation of a positive test. 

    Which of the statements given above are correct?

  3. The risk of Down syndrome is 100% in the offspring, if:
  4. Which of the following are examples of genomic imprinting? 

    1. Angelman syndrome 

    2. Williams syndrome 

    3. Prader-Willi syndrome 

    4. DiGeorge syndrome 

    Select the correct answer using the code given below:

  5. To reduce the risk of neural tube defects in the baby, which of the following are recommended?
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