Orthopaedic Aspects of SAMS Syndrome

Area of Science:

• Genetics
• Orthopedics
• Developmental Biology

Background:

• Short stature, auditory canal atresia, mandibular hypoplasia, and skeletal abnormalities (SAMS) syndrome (OMIM: 602471) is an ultra-rare autosomal-recessive developmental disorder.
• Only four cases have been reported to date, highlighting its extreme rarity.

Observation:

• SAMS syndrome presents with unique and striking skeletal anomalies.
• Key orthopaedic findings include scapulohumeral synostosis and bilateral congenital ventral dislocation of the hips.

Findings:

• The presence of bilateral congenital ventral hip dislocation and/or scapulohumeral synostosis are pathognomic features of SAMS syndrome.
• These specific skeletal abnormalities are highly indicative of SAMS syndrome.

Implications:

• Early recognition of these pathognomic features is critical for accurate diagnosis of SAMS syndrome.
• Clinicians should consider SAMS syndrome as a primary diagnosis when these skeletal abnormalities are observed or suspected.
• This underscores the importance of detailed orthopaedic assessment in diagnosing rare developmental disorders.