A 6-year-old boy is brought to your practice by his paternal grandmother for his first visit. She has recently received custody of him after his mother entered the penal system in another state; she does not have much information about him. You note that the child is short for his age, has downslanting palpebral fissures, ptosis, low-set and malformed ears, a broad and webbed neck, shield chest, and cryptorchidism. You hear a systolic ejection murmur at the pulmonic region. His grandmother reports that he does well in regular classes, but has been diagnosed with learning disabilities and receives speech therapy for language delay. His constellation of symptoms is suggestive of which of the following?

a. Noonan syndrome

b. Congenital hypothyroidism

c. Turner syndrome

d. Congenital rubella

e. Down syndrome

the answer is below…

The United States Medical Licensing Examination, or USMLE for short, is a three-part licensing examination that is required in order to receive a license to practice medicine within the United States.

The USMLE assesses a physician’s ability to apply knowledge, concepts, and principles, and to determine fundamental patient-centered skills that are important in health and disease and that constitute the basis of safe and effective patient care.Examination committees composed of medical educators and clinicians from across the United States and its territories prepare the examination materials each year.

This exam is designed by the Federation of State Medical Boards and the National Board of Medical Examiners to determine whether or not an individual understands and can apply the knowledge necessary to practice medicine safely and intelligently.

The USMLE is actually comprised of three different exams that are referred to as steps, which examine the individual’s knowledge of specific topics related to the field of medicine such as basic science, medical knowledge, medical skills, clinical science, and the application of all of these skills and areas of knowledge in the medical field.

All three steps of the USMLE include a series of computerized multiple-choice questions, but the format of the exam and the information covered in each multiple-choice section is different for each step of the USMLE. The USMLE Step II also has a clinical skills portion that examines an individual’s ability to work with real patients and the USMLE Step III has a computerized patient simulation portion in addition to the multiple-choice section of the exam. In order for an individual to receive a license to practice medicine, the individual must pass all three steps of the USMLE.

Medical doctors with an M.D. degree are required to pass this examination before being permitted to practice medicine in the United States of America

The correct answer is a; Noonan syndrome.[2]

The constellation of signs described suggest Noonan syndrome. Other features of this syndrome include cubitus valgus, pulmonary stenosis, edema of the dorsum of the hands and feet, hearing loss, pectus excavatum, bleeding diasthesis, and mental retardation in about one-fourth of cases. These patients have many features in common with Turner syndrome, and the condition is often referred to as the “male Turner syndrome,” although it occurs in both genders. Inheritance is occasionally autosomal dominant, but is more commonly sporadic. None of the other choices result a constellation of signs as described. Mental retardation is a prominent feature of untreated congenital hypothyroidism and Down syndrome, and also would be likely in congenital rubella.