PDF(Sci-hub)
Abstract：
The combination of short stature, auditory canal atresia, mandibular hypoplasia, and skeletal abnormalities (SAMS, OMIM: 602471) has been reported as an ultra-rare, autosomal-recessive developmental disorder with unique skeletal anomalies. To the present date, only four affected individuals have been reported. There are several striking orthopaedic diagnoses within the SAMS syndrome. In particular, the scapulohumoral synostosis and the bilateral congenital ventral dislocation of the hips. The purpose of this report is to underline the importance of recognizing pathognomic features of SAMS syndrome. Whenever a bilateral congenital ventral dislocation of the hips and/or a scapulohumoral synostosis is found or clinically suspected, SAMS syndrome should be considered as the primary diagnosis until proven otherwise.
摘要：
身材矮小的组合，耳道闭锁,下颌骨发育不全,和骨骼异常（SAMS，OMIM：602471)已被报道为超稀有，具有独特骨骼异常的常染色体隐性遗传发育障碍。到目前为止，只有四名受影响的人被报告。在SAMS综合征中有几种惊人的骨科诊断。特别是,肩胛骨滑膜和双侧先天性髋部腹侧脱位。本报告的目的是强调认识SAMS综合征的病理特征的重要性。无论何时发现或临床怀疑双侧先天性髋部腹侧脱位和/或肩关节滑膜炎，除非另有证明，否则应将SAMS综合征视为主要诊断。
