Saturday, January 10, 2015

A 5 year Old Child Presents With Delayed Growth And Mental Retardation



This 5 years old child was brought to a pediatrician with symptoms of delayed growth and mental retardation. Parents were concerned about him since his birth. His developmental milestones were delayed and his IQ is below average.

Physical Appearance:
 This child has following features notable on Physical examination:

  • Flat facial appearance with a flat nose and a flat occiput.
  • Upward slanting palpebral fissures
  • Protruding tongue
  • Small ears
  • Single transverse palmar crease.
  • Short broad hands
  • A heart murmur
Diagnosis:
Down Syndrome
Most common chromosomal disorder in humans primarily caused by trisomy 21 . It is a common cause of intellectual disability and causes multiple systemic complications as a part of the syndrome. 


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