Multiple malformation syndromes — Flashcards

DiGeorge syndrome is characterized by an absent _____ on CXR

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

Which neurocutaneous disorder is associated with somatic mosaicism? _____

DiGeorge syndrome is characterized by _____ serum parathyroid hormone

Trisomy 13 _____ have overlapping fingers

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

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

Patent ductus arteriosus is associated with congenital _____ infection

iodide (lack)

iodide (excess)