Congenital defects — Flashcards

Flashcard 121: Choanal atresia is characterized by congenital obstruction of _____ passages

Answer: posterior nasal

Flashcard 122: Does ASD present with a systolic or diastolic murmur? _____

Answer: Both :)

Flashcard 123: Hunter syndrome presents as a(n) milder form of Hurler syndrome with _____ behavior

Answer: aggressive

Flashcard 124: In sickle cell disease, the spleen becomes enlarged and dysfunctional in _____ ("splenic fatigue")

Answer: early childhood (functional asplenia by age 5)

Extra: * due to occlusion of microvasculature by sickled RBCs

Flashcard 125: What pathology is also known as "happy puppet" syndrome? _____

Answer: Angelman syndrome

Flashcard 126: Patients with Tetralogy of Fallot often experience "_____ spells" which may be caused by crying, fever, and exercise due to exacerbation of RV outflow obstruction

Answer: tet

Extra: (i.e. crying ↑ pulmonary stenosis and increases pulmonary resistance, so more deoxygenated blood shunted across VSD to aorta, worsening cyanosis)

Flashcard 127: The most common cause of bladder outlet obstruction in male infants is _____

Answer: posterior urethral valves

Extra: Classic findings on prenatal US include bladder distension and bilateral hydronephrosis; this condition does not occur in girls; treat with valve ablation

Flashcard 128: Osteogenesis imperfecta is characterized by multiple recurrent _____ with minimal trauma

Answer: fractures

Flashcard 129: Tricuspid atresia is an example of a(n) _____-to-_____ shunt

Answer: right

Flashcard 130: WILMS tumor is an early childhood renal malignancy that presents with an abdominal mass that is usually _____

Answer: asymptomatic