Figure 1.

Clinical characteristics of patients classified as having Crisponi syndrome. (a–d) Patient 5, at 7 months of age, showing contractions of facial muscles, chubby cheeks and hypersalivation. (e and f) Patient 5 at 1 year of age with camptodactyly of both hands. (g and h) Patient 5 at 1 year of age with contractions of facial muscles (h). (i and j) Patient 5 at 5 years and 4 months of age, showing hyperkyphosis (i) and scoliosis (j). (k and l) Patient 5 at 5 years and 4 months of age with camptodactyly of both hands. (m) Typical fever course of a patient with Crisponi Syndrome (Patient 2) after birth. Graphs show the core temperature during 66 days of measurement with peaks up to 41°C.