A 12½-year-old girl, whose condition was correctly diagnosed at birth, was seen in orthopedic consultation for right limb shortening that had been present since infancy (Fig 1). She had developed a thoracic abnormality that was managed with operative vertebral fusion when she was 4 years old and again when she was 9 years old.
On physical examination, this prepubertal, well-nourished, mentally normal girl measured 152 cm in height. She had spotty cicatricial alopecia (Fig 2, far left). Her right leg was 9.4 cm shorter than the left one (6.4 cm in the femur and 3 cm in the tibia). Her right foot was about one size smaller than the left foot. She walked on tiptoe with her right foot in an extreme equinus position (Fig 2, left center). In the right limb flexures at the wrist (Fig 2, right center), elbow, and knee (Fig 2, far
Kozlowski K, Bates EH, Young LW, Wood BP. Radiological Case of the Month. Am J Dis Child. 1988;142(11):1233-1234. doi:10.1001/archpedi.1988.02150110111032