Hereditary multiple exostoses

Case contributed by Dr Naim K

Presentation

Short stature.

Patient Data

Age: 17 years
Gender: Male
X-ray

SKELETAL SURVEY:

A prominent external occipital protuberance (occipital spur) is noted.

Upper dorsal scoliosis convex to the right side is noted.

Lower ribs bony outgrowth are seen more pronounced on the right side.

Bone outgrowth is also seen arising from the proximal humeri, proximal tibia, and left ulna distally.

Proximal and distal femoral exostosis are seen, with expansion and deformities of the femoral necks bilaterally.

Findings are consistent with hereditary multiple exostosis.

Case Discussion

A 17-year-old male evaluated by his primary physician with short stature and multiple bone outgrowths on physical examination. A skeletal survey was requested to evaluate these osteomas. Some were unilateral and other bilateral in distribution, and diagnosis of Multiple hereditary exostoses was made which is A.K.A. diaphyseal aclasis due to its association with broadened shaft at the end of long bones.

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