[Freeman-sheldon's syndrome (cranio-carpo-tarsal dysplasia) (author's transl)].An Esp Pediatr. 1976 Sep-Oct; 9(5):558-63.AE
A case with typical features of Freeman-Sheldon's syndrome is reported. The proband, a five years old girl had not any other affected members in her family, and showed every other associated malformations previously described: soft tissue swelling of supraorbital area, deep set eyes, epicantus, convergent strabismus, small nose, long philtrum area, H-Defect of chin, craneal alterations, kyphoscoliosis, finger contractures, thickening of the skin over the dorsum of the fingers, talipes equinovarus, etc. A cylindrical morphology of the three last metacarpals of both hands is remarkable.