A Young Boy with Bone and Skin Clues

Explore the case of a 3-year-old boy with café au lait spots, fibrous dysplasia, and precocious puberty. Uncover the diagnosis behind these classic signs.

McCune–Albright syndrome


A 3-year-old boy was brought to the endocrinology department with an 18-month history of bowing of the left leg that had resulted in regression of his ability to walk. On physical examination, there was lateral bowing of the left femur and anterior bowing of the left tibia, as well as testicular enlargement. Café au lait spots were also noted on the lower back, cheek, and neck. Radiographs of the wrist, femur, and tibia on the left side showed fibrous dysplasia (arrows) and rickets. What is the most likely diagnosis in this case?

What is the most likely diagnosis?

Carney complex
Fanconi anemia
McCune–Albright syndrome
Neurofibromatosis type 1 (NF1)
Osteofibrous dysplasia

Café au lait spots, Fibrous Dysplasia, GNAS mutation, McCune–Albright syndrome, Precocious Puberty

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