Presentation
The patient has a history of a genetic disorder with multiple hand surgeries to separate digits. Additional history includes mixed hearing loss and chronic otitis media in both ears.
Patient Data
Right hand: synostosis of the proximal fifth and fourth metacarpals. Absent middle phalanges of the small and ring fingers. Symphalangism of the middle and index fingers and thumb. Radial deviation of the index finger and thumb.
Left hand: synostosis of the proximal fifth and fourth metacarpals. Absent middle phalanges of the small and ring fingers. Symphalangism of the middle and index fingers and thumb. Radial deviation of the index finger and thumb.
Right shoulder radiographs demonstrate glenoid dysplasia and humeral head dysmorphology. There is suggestion of anterior glenohumeral subluxation on the scapular Y view.
Case Discussion
Apert syndrome is a rare condition that is characterized by craniosynostosis, facial abnormalities, and symmetrical syndactyly. Other clinical features include headaches, conductive hearing loss, and difficulty breathing due to narrowing of the base of the skull 1.
Syndactyly of the hand can range in severity. It can be categorized into nine different types with several subtypes by the Temtamy-McKusick classification. The most notable and common type is type 1 where the third and fourth fingers are fused 2. The metacarpal or carpal bones may also be fused, which can be identified radiographically. At the shoulder, abduction and flexion can be impaired due to abnormalities such as glenohumeral dysplasia and tuberosity overgrowth 1. Early multidisciplinary surgical interventions and physical therapy are beneficial to optimize functionality and development 3,4.
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