Musculoskeletal features
Carpal fusion was assessed in seven patients and found in two of them. Brachydactyly was frequently observed (6/9). Pectus excavatum was seen in 3/11 patients. Joint laxity was a consistent feature in the pediatric patients and reported in 8/10 patients. Scoliosis was reported in two patients and for one of the patients this was described as a Hobbs curve of 35 degrees. Vertebral anomalies were identified in 4/6 patients and involved fusion of vertebrae (also of the odontoid process and anterior arch of C1), small intervertebral distance (thoracic), loss of height of vertebrae and dysmorphic vertebrae. No contractures were described in our CSCF patients.