Multiple malformation syndromes — Flashcards

Multiple malformation syndromes — Flashcards

Multiple malformation syndromes — Flashcards
#1

DiGeorge syndrome is characterized by an absent _____ on CXR

#2

What pathology is characterized by inappropriate laughter, seizures, ataxia, and severe intellectual disability?_____

#3

Which neurocutaneous disorder is associated with somatic mosaicism? _____

#4

DiGeorge syndrome is characterized by _____ serum parathyroid hormone

#5

Trisomy 13 _____ have overlapping fingers

#6

What ocular finding is classically seen in Niemann Pick disease?_____

#7

Patients with Edwards syndrome and Patau syndrome often die within _____ year(s) of birth

#8

Patent ductus arteriosus is associated with congenital _____ infection

#9

iodide (lack)

#10

iodide (excess)

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