Successful reverse total shoulder replacement in a patient with Apert syndrome

Abstract

Apert syndrome, first described in the literature by a French pediatrician Eugene Apert, is a rare congenital form of acrocephalodactyly with autosomal dominant inheritance. Classically, this syndrome is characterized by craniosynostosis, midface hypoplasia, and symmetrical syndactyly of hands and feet resulting from embryonic anomalies during the third week of gestation. It is also associated with a variety of abnormalities of the viscera, involving the neurological, genitourinary, and cardiorespiratory systems. Glenohumeral manifestations of Apert syndrome include glenoid dysplasia, an oblong humeral head with a prominence of the greater tuberosity, acromial prominence, and inferior subluxation of the glenohumeral joint. This pathological anatomy results in progressive degenerative changes, synchondrosis, and restriction in shoulder joint mobility, particularly in flexion and abduction. While surgical options for the accompanying deformities of the feet and spine are described, interventions for shoulder pathology are not well-defined. Joint replacement surgery could offer such patients pain relief and improved function. Reverse total shoulder arthroplasty is yet to be described in Apert syndrome and this case report presents the outcome in a 48-year-old male. Level of evidence: IV case report.