Question

A 5-year-old patient presents with an irregular EKG, fever and poor reflexes. Upon assessment you notice...

  1. A 5-year-old patient presents with an irregular EKG, fever and poor reflexes. Upon assessment you notice the child is bow legged and has a cleft palate. Name the syndrome associated with these symptoms and their physiological basis. Outline a treatment strategy for these symptoms.

Science   Anatomy-And-Physiology   
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Answer #1

The child is suffering from down's syndrome(Trisomy of chromosome 21) . The cleft lip is genetic abnormality associated with down's syndrome.

The child has weak muscle tone hence the bow-legged physique. This causes the hearing and vision defects along with the poor reflexes. Most of the children are intellectually weak.

The irregular EKG is due to heart defect in the child.

Treatment and management - performing routine age-specific screening to detect associated medical conditions (eg, cardiac anomalies, hypothyroidism).
Treating specific manifestations, and providing social and educational support and genetic counseling.

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