Syndromes Flashcards

1
Q

DiGeorge

A
C: Cardiac (tetralogy of Fallot)
A: Abnormal facies (hypertelorism, VPI)
T: Thymic aplasia
C: Cleft palate
H: Hypocalcemia
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2
Q

Pallister Hall

A

Bifid uvula, hypothalamic dysfunction (hypopituitarism), hamartomas, polydactyly

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3
Q

Beckwith-Weideman

A

Macroglossia, macrosomia, hemihyperplasia, hypoglycemia, midline abdominal wall defects, auricular abnormalities, Wilms tumors, other neonatal malignancies

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