Congenital defects — Flashcards

Flashcard 541: DiGeorge syndrome is characterized by _____ serum parathyroid hormone

Answer: decreased

Flashcard 542: Autosomal recessive PKD presents in infants as worsening renal failure and _____ (BP)

Answer: hypertension

Flashcard 543: What congenital renal defect is a condition of being born with only one functioning kidney (one non-functional)?_____

Answer: Congenital solitary functioning kidney

Flashcard 544: What is the major cause of death in patients with Wiskott-Aldrich syndrome? _____

Answer: Infections

Extra: The major causes of death in patients with Wiskott-Aldrich syndrome (WAS) are: 1. **Infections** (most common, ~44-50%) 2. **Malignancies** (~26%, primarily B-cell lymphomas) 3. **Hemorrhage** (~23%, e.g., intracranial bleeding due to thrombocytopenia) Note: While bleeding is a classic early presentation (e.g., bloody diarrhea in infancy), infections remain the leading cause of mortality overall.

Flashcard 545: Does achondroplasia affect mental function, life span, and/or fertility?_____

Answer: No

Flashcard 546: Pulmonary Atresia often co-exists with _____ for outflow of RV

Answer: VSD

Flashcard 547: Potter sequence may cause _____, which is the abnormal positioning of the mandible

Answer: retrognathia

Flashcard 548: Fanconi anemia is associated with an increased risk of developing _____

Answer: cancer (e.g. tumors, leukemia)

Flashcard 549: Is dysplastic kidney heritable? _____

Answer: No

Flashcard 550: What is the most common cause of gastric outlet obstruction in infants? _____

Answer: Pyloric stenosis (1:600)