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.