Orthopaedic Aspects of SAMS Syndrome

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.

Keywords

SAMS syndrome - scapulohumoral synostosis - ventral dislocation of the hips - auditory canal atresia - mandibular hypoplasia

Publication History

Received: 09 April 2020

Accepted: 15 June 2020

Article published online:
29 July 2020

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