ANSWER: LEOPARD Syndrome – Test Question

The correct answer is B. Deafness

Correct Answer Explanation

This patient likely has LEOPARD syndrome, an autosomal dominant disease caused by a gene mutation in PTPN11, which encodes Shp2 (tyrosine phosphatase). Other findings in LEOPARD syndrome include multiple lentigines, EKG abnormalities, ocular hypertelorism, pulmonic stenosis, abnormal genitalia, retarded growth, and deafness. LEOPARD syndrome is allelic to Noonan syndrome.

Incorrect Answers Explanation

The remaining answer choices are not seen in LEOPARD syndrome.


Derm In-Review Chapter 3.9