Stauffer Alexandra, Farr Sebastian
Department of Pediatric Orthopaedics and Foot and Ankle Surgery, Orthopedic Hospital Speising, Speisingerstrasse 109, 1130, Vienna, Austria.
BMC Musculoskelet Disord. 2020 Nov 28;21(1):788. doi: 10.1186/s12891-020-03812-2.
Apert syndrome is characterised by the presence of craniosynostosis, midface retrusion and syndactyly of hands and feet, thus, synonymously referred to as acrocephalosyndactyly type I. Considering these multidisciplinary issues, frequently requiring surgical interventions at an early age, deformities of the feet have often been neglected and seem to be underestimated in the management of Apert syndrome. Typical Apert foot features range from complete fusion of the toes and a central nail mass to syndactyly of the second to fifth toe with a medially deviated great toe; however, no clear treatment algorithms were presented so far. This article reviews the current existing literature regarding the treatment approach of foot deformities in Apert syndrome.
STATE-OF-THE-ART TOPIC REVIEW: Overall, the main focus in the literature seems to be on the surgical approach to syndactyly separation of the toes and the management of the great toe deformity (hallux varus). Although the functional benefit of syndactyly separation in the foot has yet to be determined, some authors perform syndactyly separation usually in a staged procedure. Realignment of the great toe and first ray can be performed by multiple means including but not limited to second ray deletion, resection of the proximal phalanx delta bone on one side, corrective open wedge osteotomy, osteotomy of the osseous fusion between metatarsals I and II, and metatarsal I lengthening using gradual osteodistraction. Tarsal fusions and other anatomical variants may be present and have to be corrected on an individual basis. Shoe fitting problems are frequently mentioned as indication for surgery while insole support may be helpful to alleviate abnormal plantar pressures.
There is a particular need for multicenter studies to better elaborate surgical indications and treatment plans for this rare entity. Plantar pressure measurements using pedobarography should be enforced in order to document the biomechanical foot development and abnormalities during growth, and to help with indication setting. Treatment options may include conservative means (i.e. insoles, orthopedic shoes) or surgery to improve biomechanics and normalize plantar pressures.
Level V.
Apert综合征的特征为颅缝早闭、面中部后缩以及手足并指（趾）畸形，因此也被称为Ⅰ型尖头并指（趾）畸形。鉴于这些多学科问题常常需要在患者幼年时进行手术干预，足部畸形往往被忽视，在Apert综合征的治疗中似乎也未得到充分重视。典型的Apert足特征包括从脚趾完全融合及中央指甲团块到第二至第五趾并指（趾）畸形且拇趾向内侧偏斜；然而，目前尚未有明确的治疗方案。本文回顾了目前关于Apert综合征足部畸形治疗方法的现有文献。
总体而言，文献的主要关注点似乎在于脚趾并指（趾）畸形分离的手术方法以及拇趾畸形（拇内翻）的处理。尽管足部并指（趾）畸形分离的功能益处尚未确定，但一些作者通常采用分期手术进行并指（趾）畸形分离。拇趾及第一跖列的矫正可通过多种方法进行，包括但不限于第二跖列切除、一侧近端趾骨三角骨切除、矫正性开放楔形截骨、第一和第二跖骨间骨融合截骨以及使用渐进性骨延长术延长第一跖骨。跗骨融合及其他解剖变异可能存在，必须根据个体情况进行矫正。鞋类适配问题经常被提及作为手术指征，而鞋垫支撑可能有助于减轻足底异常压力。
特别需要开展多中心研究，以更好地明确针对这种罕见疾病的手术指征和治疗方案。应采用足压计进行足底压力测量，以记录生长过程中足部的生物力学发育及异常情况，并辅助确定手术指征。治疗选择可能包括保守方法（如鞋垫、矫形鞋）或手术，以改善生物力学并使足底压力正常化。
V级。
