Table 2.

Timeline of assessments, diagnoses and treatment

Patient age	Symptom(s)	Assessments/diagnoses	Treatment(s)
5–7 years	Hip pain, recurrent respiratory infections	Orthopedist assessment and diagnosis of bilateral Legg-Calve-Perthes disease	unknown
7–18 years	Short stature: see Figs. 1 and 2	Pediatric endocrinologist assessment	Leuprolide acetate (3.75 mg/month) ages 13–16 Growth hormone (0.1UI/kg/day) ages 14–18
18 years	Short stature, moderate joint contractures, mild facial dysmorphic features (coarsening of features), scoliosis, and an umbilical hernia	Referred to metabolic disease center by treating pulmonologist. enzyme activity screening for MPS I positive; genetic analysis positive for MPS I	Enzyme replacement therapy with laronidase (weekly 0.58 mg/kg infusions) initiated