Spatial Dysmorphology of the Foot in Apert Syndrome: Three-dimensional Computed Tomography

Abstract

Computer assisted medical imaging was used to define the spatial dysmorphology of the foot in three patients with Apert syndrome and to correlate that dysmorphology with ambulation and footwear. Thin slice (2 mm), abutting, high resolution axial computed tomography (CT) foot scans were obtained. The CT data were post processed, using Analyze, to generate three-dimensional surface shaded and volumetric reformations. The reformatted images were evaluated by a bone and joint radiologist to identify abnormalities of bone shape, size, and orientation, of joint morphology, and of the foot as a whole. Five consistent findings were observed among the three pairs of feet: (1) anomalous great toes with phalangeal and metatarsal pathology; (2) simple syndactyly of toes 2-5; (3) fusions between metatarsals; (4) tarsal coalitions; and (5) limitations in commercial footwear. One patient underwent bilateral fifth metatarsal wedge osteotomies to facilitate the wearing of shoes. The dysmorphology of the Apert foot is a combination of congenital malformations and postnatal deformations, secondary to progressive synostosis. Prophylactic foot surgery may be indicated in Apert patients to facilitate shoe fitting.

Minimally Invasive Hallux Interphalangeal Joint Arthrodesis for Hallux Varus in Pfeiffer Syndrome: A Case Report

“…Pfeiffer syndrome is the FGFR2-related craniosynostosis that has been more consistently associated with hallux varus (7), although hallux varus deformity has also been described in some cases of Apert (14,15) and Jackson-Weiss (16) syndromes. Hallux varus in Pfeiffer syndrome, however, has some distinctive characteristics from hallux varus arising from these others syndromes.…”

Der Apert-Fuß: Anatomische Veränderungen, Klassifikation und Überlegungen zur Operation

“…Collins und Mitarb. diskutieren, dass frühe prophylaktische Operationen des Apert-Fußes, so wie sie routinemäßig zur Korrektur der Hände erfolgen, indiziert seien, aber zu selten angewandt werden [9]. Die Fehlstellung der Großzehe sollte früh behandelt werden, weil diese häufig das Finden und Tragen von Schuhen erschwert.…”

“…Die Veränderungen an den Füßen sind progressiv. Es kommt zu einer zunehmenden Fusionierung und Rigidität im Vor- und Rückfuß mit beträchtlichen Vorwölbungen an den Fußsohlen sowie einer Verkürzung, Dorsalextension und Varusfehlstellung bei separierter Großzehe 8 , 9 , 10 , 11 , 12 , 13 , 14 .…”

Is the Apert foot an overlooked aspect of this rare genetic disease? Clinical findings and treatment options for foot deformities in Apert syndrome

“…Case 2, a 4-year-old girl presented with a bilateral calcaneocuboidal fusion in the hindfoot. The feet of a 9-year-old boy displayed a synostosis of the hindfoot with talonavicular, talocalcaneal and calcaneocuboidal fusions on CT scan [23].…”