Treatment timing and multidisciplinary approach in Apert syndrome

Abstract

SummaryApert syndrome is a rare congenital disorder characterized by craniosynostosis, midface hypoplasia and symmetric syndactyly of hands and feet. Abnormalities associated with Apert syndrome include premature fusion of coronal sutures system (coronal sutures and less frequently lambdoid suture) resulting in brachiturricephalic dismorphism and impaired skull base growth. After this brief explanation it is clear that these anatomical abnormalities may have a negative impact on the ability to perform essential functions. Due to the complexity of the syndrome a multidisciplinary (respiratory, cerebral, maxillo-mandibular, dental, ophthalmic and orthopaedic) approach is necessary in treating the psychological, aesthetic and functional issues. The aim of this paper is to analyse the different functional issues and surgical methods trying to enhance results through a treatment plan which includes different specialities involved in Apert syndrome treatment. Reduced intellectual capacity is associated to the high number of general anaesthesia the small patients are subject to. Therefore the diagnostic and therapeutic treatment plan in these patients has established integrated and tailored surgical procedures based on the patients' age in order to reduce the number of general anaesthesia, thus simplifying therapy for both Apert patients and their family members.

Apert Syndrome: Radiologist’s Perspective

“…Recognition of characteristic clinical and imaging abnormalities are crucial to radiologists and clinicians in the diagnosis and management of these patients as well as to assess the prognosis. Since there is multi-system involvement, a multidisciplinary approach with combined efforts from neurosurgery, oral and maxillofacial surgery, ophthalmic and plastic surgery team is needed in the management of patients with Apert syndrome [14]. Timing of surgical intervention may improve the overall prognosis and patient's cognitive development.…”

Clinical and operative risk factors for complications after Apert hand syndactyly reconstruction

“…Operative decisions in Apert hand syndactyly reconstruction are variable and multifactorial; numerous treatment algorithms have been proposed ( Chang et al., 2002 ; Fadda et al., 2015 ; Fearon, 2003 ; Fearon and Podner, 2013 ; Guero, 2005 ; Guero et al., 2004 ; Pettitt et al., 2017 ; Raposo-Amaral et al., 2018 ; Van Heest et al., 1997 ). In light of inherent differences in syndactyly types among web spaces in Apert hands, the surgeon may choose different flap or incision approaches for individual web spaces on the same hand.…”