Friends are considering adopting from another country a “special needs” child. The family has few details, but the information they have received so far suggests the 4-year-old child has had surgery for an endocardial cushion defect, is short for his age, and had a history of what sounds like surgically repaired duodenal atresia at birth. You are suspicious this child may have which of the following syndromes?

a. Kleinfelter

b. Waardenberg

c. Marfan

d. Down

e. Turner

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 d; Down.[2]

Down syndrome has many diagnostic features, including short stature, microcephaly, centrally placed hair whorl, small ears, redundant skin on the nape of the neck, upslanting palpebral fissures, epicanthal folds, flat nasal bridge, Brushfield spots, protruding tongue, short and broad hands, simian creases, widely spaced first and second toe, and hypotonia. Cardiac lesions are found in 30 to 50% of children with Down syndrome, including endocardial cushion defect (30%), ventricular septal defect (30%), and tetralogy of Fallot (about 30%). At birth, duodenal atresia is a common finding. It causes bilious vomiting and a characteristic KUB finding of a double bubble (dilatation of the stomach and the proximal duodenum). In Klinefelter syndrome, the testes are smaller than normal for age and feel firm and fibrotic. Physical examination often reveals a eunuchoid body habitus and reduced upper-to-lower body segment ratio secondary to a long lower segment. Diagnosis is established by means of buccal smear and karyotyping. Levels of luteinizing hormone are elevated after 12 years of age.

Common features of Turner syndrome include female phenotype, short stature, sexual infantilism, streak gonads, broad chest, low hairline, webbed neck, congenital lymphedema of the hands and feet, coarctation of the aorta, and a variety of other anomalies.

Marfan syndrome is a serious disease of connective tissue that is inherited in the autosomal dominant mode. The predominant findings in this condition are bilateral subluxation of the lens, dilatation of the aortic root, and disproportionately long limbs in comparison with the trunk. The decreased upper-to-lower segment ratio in Marfan syndrome reflects this relative increase in the length of the legs compared with the trunk.

Waardenburg syndrome is the most common of several syndromes that are characterized by both deafness and pigmentary changes. Features of this syndrome, which is inherited as an autosomal dominant disorder, include a distinctive white forelock, heterochromia irides, unilateral or bilateral congenital deafness, and lateral displacement of the inner canthi.

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