Savini R, Gualdrini G
Ital J Orthop Traumatol. 1980 Apr;6(1):105-15.
The Freeman-Sheldon syndrome is a rare hereditary disorder that was described by these authors in 1938 under the name of "cranio-carpotarsal dystrophia". It is characterised by a combination of congenital malformations of which the principal are: deformities of the face and skull, flexion and ulnar deviation of the fingers and talipes. The appearance of the face is the most striking feature, the small dimension of the oral fissure giving rise to the term "whistling face" proposed by Burian (1963). Spinal curvature is often present, and can show marked progression, as in one of our cases. The congenital hip dislocation present in both our cases has not been observed in previously described cases. As far as we know, the two cases described here are the first in Italy to be added to the other twenty-eight already reported in literature.
弗里曼-谢尔顿综合征是一种罕见的遗传性疾病，1938年由这些作者以“颅腕跗骨营养不良”之名进行了描述。其特征为多种先天性畸形的组合，主要包括：面部和颅骨畸形、手指屈曲及尺侧偏斜以及畸形足。面部外观是最显著的特征，口裂狭小导致了布里安（1963年）提出的“吹口哨面容”这一术语。脊柱侧弯常常存在，并且可能会显著进展，就像我们的一个病例那样。我们两个病例中出现的先天性髋关节脱位在之前描述的病例中尚未见到。据我们所知，这里描述的这两个病例是意大利首例，此前文献中已报道过另外28例。
