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CBL-3 1st Year MBBS

50 years old Razia brought her youngest 4 year old son to the OPD of a tertiary care hospital with complains that the child has not yet started walking or speaking and has different facial features than rest of the family members. All other family members were normal.

On examination:

He appeared shorter for his age. He had a small head, depressed nasal bridge, upward slanting eyes and small ears with folded ear pinna. He could barely talk but could communication with gestures. Hands were small with fifth finger bent towards the fourth and there was only single palmar crease. He also showed muscular hypotonia.

His investigation showed:

ECG: QRS axis deviation

Thyroidfunction test: Raised TSH and Decreased T4

Learning objectives

  1. Structure, function and different parts of cell.
  2. Importance of cell membrane in regulating various function and defects in disease states.
  3. Importance of cell nucleus in defining cell function and determining phenotype and genotype of the species.
  4. Structure, number and types of chromosomes
  5. Effects of chromosomal anomalies on gross appearance and physiological function of human body
  6. Clinical feature of this syndrome and name it.
  7. Social and ethical issues associated with this syndrome.
  8. Other related syndromes of numerical and structural chromosomal abnormalities