Congenital- Down's

Question 1

Def.

Answer 1

• Most common autosomal syndrome (1 in 600 births).

- Occurs d/t trisomy of chromosome 21.

Question 2

Dx

Answer 2

• Identified at birth by:
• small skull AP;
• small nose with flat bridge,
• slanting eyes / protruding tongue.

Question 3

Radiol Fx

Answer 3

• Cx Flexion and lateral projections;
• Most clinically significant sign:
  * increased ADI -> indicates atlantoaxial instability (agenesis of transverse ligament of atlas)
• C1 A-P diameter decreased.
• Manubrium has multiple ossification centers.
• Small paranasal sinuses