Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
8603476 | The Journal of Foot and Ankle Surgery | 2018 | 5 Pages |
Abstract
Pfeiffer syndrome is a rare hereditary condition with an autosomal dominant transmission caused by a mutation that affects fibroblast growth factor receptors. It is one of the acrocephalosyndactyly diseases causing cranial malformations owing to early suture fusion. In the foot, it is typically associated with hallux varus, first ray hyperplasia, and partial lesser digit syndactyly. We report a clinical case of a 10-year-old patient with Pfeiffer type I syndrome with bilateral severe hallux varus due to a hypoplastic trapezoidal shaped proximal phalanx, a distal, medial-facing articular surface, and interphalangeal instability. This deformity was addressed by minimally invasive hallux interphalangeal joint arthrodesis with internal and external fixation. We report the results at the 2-year follow-up point.
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Authors
Miguel MD, Pedro MD, Ana Luisa MD, Nelson MD, Paulo MD, Francisco Guerra MD,