Musculoskeletal 1
| Monitoring for progression of scoliosis & other skeletal findings by orthopedic surgeon or physiatrist | Routinely |
CT of skull | Every 5 yrs or more frequently in younger persons, those w/severe disease, or if vision or hearing deficits develop |
Radiographs to evaluate new or worsening symptoms & provide additional information about FD anatomy & bone quality | Periodically |
Endocrine
|
Puberty (females)
| Eval for growth acceleration & other clinical signs of precocious puberty 2, 3 | At each visit |
Bone age assessment | Every 6 mos in those w/bone age advancement of ≥2 yrs |
Puberty (males)
| Eval for growth acceleration & other clinical signs of precocious puberty 3, 4 | At each visit |
Bone age assessment | Every 6 mos in those w/bone age advancement of ≥2 yrs |
Testicular physical exam | At each visit |
Testicular ultrasound | Periodically |
Thyroid
| Thyroid function tests (TSH, free T4, T3) | Every 4-6 mos in children age <3 yrs & annually in children age >3 yrs throughout childhood if ultrasound abnormalities are present 5 |
Physical exam of thyroid | Periodically in those w/retained abnormal thyroid tissue following thyroidectomy 6 |
Thyroid ultrasound | Periodically in those w/abnormalities on thyroid ultrasound or who have undergone thyroidectomy 6, 7 |
Adrenal 8
| Assessment for clinical signs of hypercortisolism 9 | In infants at each visit |
Assessment for signs & symptoms of late-appearing adrenal insufficiency in those w/history of Cushing syndrome that has spontaneously resolved 8 | At each visit |
Pituitary
| Eval for growth acceleration & other clinical signs of GH excess |
Serum IGF-1 levels | Routinely through young adulthood in those w/craniofacial FD |
Assessment for signs & symptoms of gallbladder disease in those treated w/somatostatin analogs | Periodically |
Renal
| Serum phosphorus & 25-hydroxyvitamin D levels 1, 10 |
Eyes
| Eval by ophthalmologist (or neuro-ophthalmologist) | Annually in those w/craniofacial FD |
ENT
| Eval by audiologist |
Gastrointestinal
| Assessment for evidence of hepatotoxicity for those on pegvisomant | Periodically |
Oncology
| Consider breast cancer screening. 11 | Annually beginning earlier than recommended for general population |