DiGeorge syndrome

on 2.9.08 with 0 comments



  • dysmorphic facies

    • hypertelorism (wide-set eyes)

    • fish mouth

    • long filtrum

  • 3rd and 4th branchial pouch maldevelopment leads to…

    • parathyroid hypoplasia/atresia

    • thymic hypoplasia/atresia

    • severe CHD

      • truncus arteriosis

      • aortic coarctation

      • tetralogy of Fallot

      • pulmonary atresia

  • caused by 22q11 microdeletion, which is not uncommon in various CHD

Category: Pathology Notes

POST COMMENT

0 comments:

Post a Comment