Talocalcaneal coalition in Muenke syndrome: Report of a patient, review of the literature in FGFR‐related craniosynostoses, and consideration of mechanism

Abstract

Muenke syndrome is an autosomal dominant craniosynostosis syndrome resulting from a defining point mutation in the FGFR3 gene. Muenke syndrome is characterized by coronal craniosynostosis (bilateral more often than unilateral), hearing loss, developmental delay and carpal and/or tarsal bone coalition. Tarsal coalition is a distinct feature of Muenke syndrome and has been reported since the initial description of the disorder in the 1990s. Although talocalcaneal coalition is the most common tarsal coalition in the general population, it has never been previously been reported in a patient with Muenke syndrome. We present a 7-year-old female patient with Muenke syndrome and symptomatic talocalcaneal coalition. She presented at the age of 7 with limping, tenderness and pain in her right foot following a fall and strain of her right foot. She was treated with ibuprofen, shoe inserts, a CAM walker boot and stretching exercises without much improvement in symptoms. A Computed Tomography (CT) scan revealed bilateral talocalcaneal coalitions involving the middle facet. She underwent resection of the talocalcaneal coalitions, remaining pain-free postoperatively with an improvement in her range of motion, gait and mobility. This report expands the phenotype of tarsal coalition in Muenke syndrome to include talocalcaneal coalition. A literature review revealed a high incidence of tarsal coalition in all FGFR related craniosynostosis syndromes when compared to the general population, a difference that is statistically significant. The most common articulation involved in all syndromic craniosynostoses associated with FGFR mutations is the calcaneocuboid articulation.

A Qualitative Study to Explore the Views and Attitudes towards Prenatal Testing in Adults Who Have Muenke Syndrome and their Partners

“…The participants in this present study, who were previously undiagnosed, were found to be relieved by their molecular diagnosis and in addition had an overwhelming feeling of their past making sense, and the challenges in their childhood being accounted for. There have been many case studies reported in the literature, but these studies have not commented on this psychological aspect of the molecular diagnosis (Agochukwu, Solomon, Benson, & Muenke 2013;Escobar, Hiett, & Marnocha 2009), and as such it would be interesting to see if further qualitative studies with a larger cohort had similar findings to the present study The additional genetic diagnosis following the craniosynostosis diagnosis caused further distress to the participants in this study. There is limited evidence in the literature as to the impact of a secondary genetic diagnosis following major surgery.…”

Impact of genetics on the diagnosis and clinical management of syndromic craniosynostoses

“…Skeletal anomalies, including carpal and tarsal bone fusions and/or cervical spine abnormalities, are common in Apert, Pfeiffer, Crouzon, Jackson–Weiss, Saethre– Chotzen, and Muenke syndromes [4]. Additional anomalies of the limb include radiohumeral synostosis, short humeri, and elbow ankylosis/synostosis in Apert and Pfeiffer syndromes [7, 8, 22, 25] (Table 3).…”

Commonly Used Types and Recent Development of Ankle-Foot Orthosis: A Narrative Review

“…The entire inner part of the orthosis contains liners to provide cushion for the inner surface. The WB, like a cast, reduces movement by fixing the lower extremities and ankles at 90 • , but the front plate of the orthosis can be easily removed to identify and evaluate wounds [28][29][30]. As the bottom surface is commonly produced with a rocker bottom, a more natural and comfortable movement is possible during the toe-off of the initial swing [31].…”

“…An angle adjuster can be added when necessary to adjust the orthosis and allow for ankle movement within the required range. The WB is used for acute injuries such as ligament sprains/tears, postoperative stabilization or support, ulcers, or cases with fractures [29,[32][33][34][35]. Amaha et al [36] in 2016 retrospectively evaluated patients who had surgeries for unstable ankle fractures.…”