Staalman C R, Bakker H D
Skeletal Radiol. 1984;12(3):153-61. doi: 10.1007/BF00361081.
A patient with mucolipidosis I (ML I) is presented. The roentgenographic findings in the skull, hands, ribs, vertebral column, pelvis, and tubular bones are described. Special emphasis is laid on the evaluation of the skeletal alterations during a 13-years follow-up. The similarities to and the differences from the so-called dysostosis multiplex (DM) are outlined. Some peculiarities which may be specific to ML I are discussed. Attention is given to an exceptional feature in our case of this very rare condition, namely, the marked thickening which developed on the frontal portions of the base of the skull, including the sellar region.
本文报告了一名患有黏脂贮积症I型（ML I）的患者。描述了其颅骨、手部、肋骨、脊柱、骨盆和管状骨的X线表现。特别强调了在13年随访期间对骨骼改变的评估。概述了与所谓的多发性骨发育异常（DM）的异同。讨论了一些可能特定于ML I的特征。注意到在我们这个非常罕见病例中的一个特殊特征，即颅底前部包括蝶鞍区出现明显增厚。
