Am Fam Physician. 2024;110(2):195-196
Author disclosure: No relevant financial relationships.
A 19-year-old female patient presented with a 4-year history of pain in multiple joints. Ibuprofen and heating pads provided mild relief, but her symptoms were recurring. She also reported having overly flexible joints, daily musculoskeletal pain, repeated joint dislocations, hearing loss in her left ear, and easy bruising. She did not report any other symptoms. The joint pain was not related to injury, and she had never participated in organized sports. Her medical history included a meniscal tear without inciting trauma. The patient’s mother and maternal uncle also had joint hyperlaxity.
Physical examination revealed soft, nonpigmented papules on the lateral aspect of the heels (Figure 1). The patient also had hyperlaxity in the first and fifth digits (Figure 2), elbows, and knees. No joint swelling or tenderness was noted. Physical and cardiovascular examination findings were otherwise unremarkable.
QUESTION
Based on the patient’s history and physical examination, which one of the following is the most likely diagnosis?
A. Cutis laxa.
B. Ehlers-Danlos syndrome.
C. Larsen syndrome.
D. Marfan syndrome.
E. Osteogenesis imperfecta.
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