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 Flora, Pedro Diniz, Ana Luisa Neto, Nelson Teixeira, Paulo Carvalho, Francisco Guerra Pinto |
Journal | The Journal of foot and ankle surgery : official publication of the American College of Foot and Ankle Surgeons
(J Foot Ankle Surg)
2018 Jan - Feb
Vol. 57
Issue 1
Pg. 205-209
ISSN: 1542-2224 [Electronic] United States |
PMID | 29103889
(Publication Type: Case Reports, Journal Article)
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Copyright | Copyright © 2017 The American College of Foot and Ankle Surgeons. Published by Elsevier Inc. All rights reserved. |
Topics |
- Acrocephalosyndactylia
(complications, diagnosis)
- Arthrodesis
(instrumentation, methods)
- Arthroscopy
(instrumentation, methods)
- Bone Screws
- Child
- Female
- Hallux Varus
(diagnostic imaging, etiology, surgery)
- Humans
- Magnetic Resonance Imaging
(methods)
- Minimally Invasive Surgical Procedures
(methods)
- Patient Positioning
(methods)
- Prognosis
- Radiography
(methods)
- Rare Diseases
- Treatment Outcome
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