While rounding in the neonatal nursery, a routine physical exam on an infant reveals aniridia and genital malformations. For which condition should this infant be screened?
Endocardial cushion defects
Hypercalcemia
Hypocalcemia
Tay-Sachs
Wilms tumor
Correct answer
Wilms tumor
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correct answer: E
This is the WAGR complex: Wilms tumor, aniridia, genital malformations and mental retardation. It is called AGR if Wilms tumor is not present, but >30% of people with AGR will develop Wilms tumor.
Endocardial cushion defects are a common feature of Down syndrome.
Hypocalcemia is a feature of the 22q11 syndromes. DiGeorge syndrome specifically causes anomalies of the 3rd and 4th branchial pouches which lead to hypoparathyroidism and hypocalcemia.
Tay-Sachs is a defect in hexosaminidase A which leads to accumulation of GM2 ganglioside. Patients usually present with progressive developmental delay and cherry-red spot on fundoscopic exam.
Hypercalcemia is a feature of Williams syndrome, which is characterized by elfin facies, “cocktail party” personality, and other anomalies. It is a deletion in chromosome 7.