Congenital defects — Flashcards

Flashcard 141: Congenital Rubella is characterized by _____ of the ear

Answer: sensorineural deafness

Flashcard 142: In children, primary CNS tumors are usually _____-tentorial

Answer: infra

Flashcard 143: Do strawberry (superficial) hemangiomas regress? _____

Answer: Yes

Flashcard 144: Which form of Rubella, adult or congenital, presents with sensorineural deafness? _____

Answer: Congenital

Flashcard 145: _____ syndrome is a 22q11 deletion syndrome with a normal thymus that presents clinically as abnormal facies, cleft palate, and cyanotic congenital heart disease

Answer: Velocardiofacial

Extra: Velocardiofacial syndrome and DiGeorge syndrome are both part of the 22q11.2 microdeletion syndrome spectrum. VCFS typically presents with a normal thymus, distinguishing it from the thymic aplasia/hypoplasia seen in DiGeorge syndrome.

Flashcard 146: Which congenital infection presents as chorioretinitis, hydrocephalus, and intracranial calcifications? _____

Answer: Congenital toxoplasmosis

Flashcard 147: IPEX syndrome is due to a genetic deficiency of _____

Answer: FOXP3

Flashcard 148: Patients with patent ductus arteriosus can be predisposed to _____ infections

Answer: respiratory tract

Flashcard 149: Patients with Zellweger Syndrome often have _____ abnormalities

Answer: craniofacial

Flashcard 150: How does sickle cell anemia present in newborns? Why? _____

Answer: Asymptomatic (high HbF, low HbS)

Extra: Other: