Successful reverse total shoulder replacement in a patient with Apert syndrome

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 f...

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Published inShoulder & elbow Vol. 16; no. 2; p. 169
Main Authors Burton, Codey, Koong, Denis P, Seagrave, Kurt, Spasojevic, Milos, Mackenzie, Sam, Cass, Ben
Format Journal Article
LanguageEnglish
Published United States 01.04.2024
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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. : IV case report.
AbstractList 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. : IV case report.
Author Burton, Codey
Cass, Ben
Seagrave, Kurt
Mackenzie, Sam
Koong, Denis P
Spasojevic, Milos
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  organization: Sydney Shoulder Research Institute, St Leonards, Australia
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Keywords dysplastic osteoarthritis
Apert syndrome
reverse total shoulder arthroplasty
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Title Successful reverse total shoulder replacement in a patient with Apert syndrome
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