Syndromes Flashcards
1
Q
DiGeorge
A
C: Cardiac (tetralogy of Fallot) A: Abnormal facies (hypertelorism, VPI) T: Thymic aplasia C: Cleft palate H: Hypocalcemia
2
Q
Pallister Hall
A
Bifid uvula, hypothalamic dysfunction (hypopituitarism), hamartomas, polydactyly
3
Q
Beckwith-Weideman
A
Macroglossia, macrosomia, hemihyperplasia, hypoglycemia, midline abdominal wall defects, auricular abnormalities, Wilms tumors, other neonatal malignancies