Clinical and radiological features at diagnosis of 4 patients from 2 families with CACP.
| Family 1 | Family 2 | Total | |||
|---|---|---|---|---|---|
| No. of children | 4 | 2 | |||
| No. of affected children | 3 | 1 | |||
| Patient no. | 1 | 2 | 3 | 4 | |
| Parental consanguinity | No | No | |||
| Place of residence | Same county | Same county | |||
| Sex | M | F | M | F | 2 M/2 F |
| Age at onset | 47 d | 39 d | 5 yrs | After birth | Birth-5 yrs |
| Age at diagnosis | 2 mos | 11 yrs | 7 yrs | 7 yrs | 2 mos-11yrs |
| First findings | W, A | W, A | W, E, K, A | W, E, rash | 4 W, 3 A, 2 E, 1 K, 1 Rash |
| Clinical features | |||||
| Camptodactyly of hands/feet | − | + | − | + | 2/4 |
| Arthropathy | |||||
| Wrists | + | + | + | + | 4/4 |
| Elbows | − | + | + | + | 3/4 |
| Knees | + | + | + | − | 3/4 |
| Hips | − | + | + | + | 3/4 |
| Ankles | + | + | + | − | 3/4 |
| Cervical vertebra | − | − | − | + | 1/4 |
| Coxa vara | − | − | − | − | 0/4 |
| Pericarditis/pleuritis | − | + | − | − | 1/4 |
| Joint pain | − | − | − | − | 0/4 |
| Limitation of activity | − | + | − | + | 2/4 |
| Rash | − | − | − | + | 1/4 |
| Radiological findings | |||||
| Coxa vara | − | − | − | − | 0/4 |
| Flattened femoral heads | − | − | − | − | 0/4 |
| Short femoral neck | − | + | − | + | 2/4 |
| Osteoporosis/bone density decreased | + | + | + | + | 4/4 |
| Intraosseous cysts | − | + | + | + | 3/4 |
| Anterior deformity | − | − | + | − | 1/4 |
| Heart ultrasound | N | N | N | Pulmonary stenosis, mitral valve regurgitation | 1/4 |
A: ankle; CACP: Camptodactyly-arthropathy-coxa vara-pericarditis; E: elbows; K: knee; N: normal; W: wrist.