2025 – PAGE 67 – ADOLESCENT MEDICINE

(DOUBLE TAKE) MARFAN SYNDROME (AKA MARFANS SYNDROME)

Classic features of Marfan Syndrome (AKA Marfans Syndrome) include tall stature with long and thin upper extremities, long fingers, a pectus deformity, joint flexibility/hypermobility, and possible cardiac problems. Cardiac problems may include mitral valve prolapse (MVP), aortic dissection, and mitral or aortic regurgitation. Patients may have a high-arched palate and a speech disorder, but do NOT have cognitive deficits. Patients are also at risk for esophageal perforation.

• PEARLS: Patients can have subluxation of the lens, which may also be seen in Ehlers-Danlosand homocystinuria. If they mention SUPERIOR subluxation of the lens, pick Marfan. Any patient with Marfan should not be cleared for sports participation until they have had an echocardiogram and an evaluation by a cardiologist. If they mention “arm span greater than height,” you’re done.
• IMAGE: www.pbrlinks.com/MARFANS1
• IMAGE: www.pbrlinks.com/MARFANS2
• PEARL: When using your hardcopy book, type the image short links into a browser or use the scrolling edition on your phone or desktop for instant, one-click access to hundreds of high-yield images. It’s fast, saves you from researching images, gives you access to ~400 images, and prevents you from having to carry a 200-page heavier book!
• MNEMONIC: www.pbrlinks.com/MARFANS3 – Michael Phelps won several gold medals. Isn’t that just like winning the Most Valuable Player (MVP = Mitral Valve Prolapse)?

HIGH CALORIC INTAKE

Patients with high caloric intake are tall, overweight, and can have an advanced bone age.

OBESITY

The high caloric intake in obesity CAN also result in tall stature with advanced bone age. If obesity is due to a hormonal/endocrine issue, the patient is usually fat but short + delayed bone age. If no bone age is provided in the question, consider Cushing’s as the diagnosis.

PEARL: Obesity is a risk factor for depression and Slipped Capital Femoral Epiphysis (SCFE).

GROWTH CHART TRENDS

NOTE: There are MANY questions that present with growth charts. Please be as familiar as possible with the above-mentioned information and the information below. These questions are often difficult and come down to a guess between two answers.

ENDOCRINE DISORDERS

Endocrine disorders often present with the presence, or development, of short stature. The patient’s weight is often still normal, or possibly even elevated. Considerations include: GH DEFICIENCY, HYPOTHYROIDISM, DIABETES MELLITUS, and CUSHING’S (short/fat—if the patient is tall, it’s NOT CUSHING’S).