Liaño H, Gimeno A
An Esp Pediatr. 1976 Sep-Oct;9(5):558-63.
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.
报告了一例具有弗里曼-谢尔登综合征典型特征的病例。先证者是一名5岁女孩，其家族中无其他患病成员，且表现出先前描述的所有其他相关畸形：眶上区域软组织肿胀、眼深陷、内眦赘皮、共同性斜视、小鼻子、长人中区域、下巴H形缺损、颅骨改变、脊柱侧凸、手指挛缩、手指背侧皮肤增厚、马蹄内翻足等。双手最后三节掌骨呈圆柱形形态明显。
