Mid-diaphyseal Endosteal Thickening With Subsequent Medullary Narrowing in a Patient With Hallermann-Streiff Syndrome

Abstract

We report on a 5-year-old girl who presented with the full clinical criteria of Hallermann-Streiff syndrome (HSS). Classically, overtubulation (thin and gracile) bones are the characteristic and constant features in HSS. Interestingly, our present patient manifested unusual mid-diaphyseal endosteal thickening with subsequent medullary narrowing (defective endosteal resorption). To the best of our knowledge no previous reports described such unusual feature in a patient with HSS.




doi:10.4021/jocmr704e