Tall Stature, Pectus Excavatum, and Lax Joints in a Young Boy: Are These Signs of a Genetic Disorder?

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A 6-year-old boy is referred to you by his school nurse because he tires easily and has poor concentration. His medical and family histories are unremarkable, and he has no signs of motor or speech delay. The parents are concerned that his pectus excavatum and flexible joints represent a medical condition and that his fatigue is limiting his activities.

Examination reveals that the child’s height is above the 97th percentile and his weight is at the 25th percentile for age. His resting heart and respiration rates are elevated. He has lax facial skin that gives him an aged appearance (see Photo) and pectus excavatum. A grade 2/6 systolic heart murmur is heard over most of the precordium and radiates toward the apex but not the back. The child has increased joint flexibility; he can append his thumbs to his forearms. He has a mild scoliosis and long feet with flat arches.

• What disease category would you consider?

• What physical signs might confirm a specific diagnosis within this category?

• What testing would you consider, what referrals would you make, and what medical treatment might be available to help with his fatigue?

(Answers on next page.)