Table 3.
Proposed management recommandations for the follow-up of patients presenting with acrodysostosis
| Assessments | At diagnosis | Minimal frequency |
|---|---|---|
| Physical examination | ||
| Vital parameters (arterial blood pressure) | X | Systematic per year |
| Physical examination (including facial gestalt, neurologic examination) | X | |
| Anthropometrics measurements (BMI) | X | |
| Joint mobility | X | |
| Vertebral static assessment | X | |
| Developmental milestones assessment | X | |
| Endocrine screening | ||
| Calcemia, phosphoremia, PTH, 25-hydroxy-vitamine D, FGF23, calciuria/creatininuria | X | Systematic per year |
| T3, T4, TSH | X | Systematic per year |
| IGF1 (+/− GH stimulation test) | X | Once, if growth deficiency |
| Gonadotropic axis testing | X | Depending on puberty |
| Blood glucose level | X | Systematic per year |
| Others | ||
| Genetics | X | Systematic per year |
| Ear, nose, and throat (deafness? infections?) | X | Systematic per year |
| Oral and maxillofacial (teeth? Nasal hypoplasia?) | X | Systematic per year |
| Polygraphy | X | If symptoms of sleep apnea syndrome |
| Thromboembolic risk factors | X | Systematic per year |
| Heart ultrasound | X | Once |
| X-rays | X | Depending on orthopedics |
| Cerebral MRI | X | Once, +/− depending on clinic |
| Psychological support | X | Systematic |