7 Interesting Facts of DiGeorge syndrome
- Congenital syndrome characterized by developmental defects in the thymus, parathyroids, and great vessels (fourth branchial arch, third and fourth branchial pouch development)
- Intellectual disability and dysmorphic facies are features of both Williams and DiGeorge syndromes
- Distinguishing features of DiGeorge syndrome include hypoparathyroidism, frequent cleft lip/palate, craniofacial defects, hypocalcemia, and immunodeficiency
- Differentiated from Williams syndrome by detection of the genetic deletion at 22q11 by fluorescence in situ hybridization
