BMC Endocrine Disorders volume 18, Article number: 83 (2018)

Ana Maria Martins, Kristin Lindstrom, Sandra Obikawa Kyosen, Maria Veronica Munoz-Rojas, Nathan Thibault & Lynda E. Polgreen

The case study patient had many symptoms of MPS I yet remained undiagnosed for 11 years after presenting with short stature. The appropriate path to MPS I diagnosis when patients present with short stature and/or growth failure plus one or more of the common signs of attenuated disease is described. Improved awareness regarding the association of short stature and growth failure with attenuated MPS I is needed since early identification and treatment significantly decreases disease burden.

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