Guzzanti V, Toniolo R M, Lembo A
Servizio di Ortopedia e Traumatologia dell'Ospedale Bambino Gesù, Istituto di Ricerca Scientifica, Sede di Roma.
Arch Putti Chir Organi Mov. 1990;38(1):215-22.
The authors report two cases of Freeman-Sheldon syndrome, characterised by recessive autosomic transmission, affecting a brother and a sister born of parents who were not blood relations. The syndrome, for which 50 cases are described in the literature, takes its name from the authors who were the first to describe it in 1938. The typical picture is based on congenital deformity involving the cranium, the face and the locomotor apparatus, with a particular aspect of the subject affected related to his or her expression, resembling that of someone whistling ("whistling face", Burian, 1963). In addition to the descriptive aspect of the syndrome and to the means of its transmission, the authors report orthopaedic aspects concerning the locomotor apparatus and problems related to the type of surgery performed.
作者报告了两例弗里曼-谢尔顿综合征病例，其特征为常染色体隐性遗传，患者为一对非近亲父母所生的兄妹。该综合征在文献中已有50例描述，其名称来源于1938年首次描述它的作者。典型症状基于涉及颅骨、面部和运动器官的先天性畸形，患者的特殊面容与其表情有关，类似吹口哨的人（“吹口哨面容”，布里安，1963年）。除了该综合征的描述性方面及其遗传方式外，作者还报告了与运动器官相关的骨科方面以及所进行手术类型的相关问题。
