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
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.
No comments:
Post a Comment