Congenital defects — Flashcards

Flashcard 551: Spinal muscular atrophy presents with _____-lateral symmetric weakness

Answer: bi

Flashcard 552: Is dysplastic kidney heritable? _____

Answer: No

Flashcard 553: Which neurocutaneous disorder is associated with somatic mosaicism? _____

Answer: Sturge-Weber syndrome

Flashcard 554: Diamond-Blackfan anemia is characterized by increased % Hb_____, but decreased total Hb

Answer: F

Flashcard 555: In the classic triad of congenital toxoplasmosis, what is the characteristic intracranial imaging finding?

Answer: Diffuse intracranial calcifications

Extra: The classic triad of congenital toxoplasmosis includes: 1. Chorioretinitis 2. Hydrocephalus 3. Diffuse intracranial calcifications (scattered throughout the brain parenchyma). Note: Ring-enhancing lesions are characteristic of Toxoplasmosis in immunocompromised/HIV patients (reactivation), not the congenital form. Contrast with Congenital CMV, which presents with periventricular calcifications.

Flashcard 556: _____ is the most common cause of dwarfism

Answer: Achondroplasia

Flashcard 557: What is the most common cause of genetic intellectual disability? _____

Answer: Down syndrome

Flashcard 558: Which CNS tumor compresses the optic chiasm, causing bitemporal hemianopsia, in children? _____

Answer: Craniopharyngioma

Flashcard 559: What ocular pathology does Krabbe disease often present with?_____

Answer: Optic atrophy

Flashcard 560: Patients with patent ductus arteriosus can be predisposed to _____ infections

Answer: respiratory tract