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
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