TABLE 1.
Clinical features of the six probands
| Patients | Gendera | Age at recruitment | Clinical manifestation | ||||||
|---|---|---|---|---|---|---|---|---|---|
| CIPA a | Bone fractures | Recurrent fever | Intellectual disability | Self‐mutilation | Irascibility | Othersa | |||
| 1.1 | F | 13 years | Y | Y | Y | Y | Y | Y | Charcot's osteoarthropathy in left knee; leukodystrophy |
| 2.1 | F | 3.5 years | Y | Y | Y | Y | Y | Y | N/A |
| 3.1 | F | 2.5 years | Y | N | Y | N | Y | N | Dislocation of the right hip |
| 4.1 | F | 3.5 years | Y | N | Y | Y | Y | Y | N/A |
| 5.1 | M | 10 years | Y | Y | Y | Y | Y | Y | N/A |
| 6.1 | M | 3 years | Y | Y | Y | Y | Y | Y | N/A |
Abbreviations: F, female; M, male; N, no; N/A, not available; Y, yes.
a
congenital insensitivity to pain with anhidrosis.