Prevalence of Hand Malformations in Patients With Moebius Syndrome and Their Management

Abstract

Background: Moebius syndrome is a disorder characterized by facial and abducens nerve paralysis. Patients can present a wide range of upper extremity malformations. Literature focused on orthopedic manifestations of Moebius syndrome shows variability in the prevalence and clinical presentation of upper extremity anomalies. The aim of this work is to evaluate the prevalence of upper extremity malformations in patients with Moebius syndrome, clarify its various clinical presentations, and present treatment strategies for their management. Methods: This is a retrospective, cross-sectional study including patients with Moebius syndrome and upper extremity malformations between 2012 and 2019. Data include demographic characteristics, Moebius syndrome subtype, type of malformation, affected extremity, and surgical procedures underwent. Quantitative data were recorded as mean (standard deviation [SD]), and qualitative data were expressed in terms of totals and percentages. Statistical association between Moebius syndrome subtype and development of upper extremity anomalies was evaluated using binary logistic regression. Results: Twenty-five out of 153 patients (16.3%) presented upper extremity malformations (48% male). Mean age of presentation was 9.08 ± 9.43 years. Sixty-eight percent of the malformations were unilateral. The most common presentations included Poland syndrome and simple syndactyly with 8 cases each (32%), followed by 5 cases of brachysyndactyly (20%), 3 cases of amniotic band syndrome (12%), and 1 case of cleft hand (4%). No statistical association was found between Moebius syndrome subtype and odds ratio for development of upper extremity anomalies. Thirteen patients (52%) underwent reconstructive procedures. Conclusion: Poland syndrome and syndactyly are the most common anomalies in patients with Moebius syndrome. Patients may present with a wide range of hand malformations, each patient should be carefully evaluated in order to determine whether surgical treatment is needed and to optimize rehabilitation protocols.

Monozygotic twins discordant for a congenital cranial dysinnervation disorder with features of Moebius syndrome

“…A vascular disruption process involving the subclavian and vertebral arteries, or their branches, is the most widely accepted nongenetic etiology hypothesis for Moebius syndrome, and aligns with the suspected etiology of Poland anomaly and Klippel-Feil anomaly (Bavinck et al, 1986). One study demonstrated that 16% of patients with Moebius syndrome also had an upper extremity anomaly, with Poland anomaly the most commonly observed (Telich-Tarriba et al, 2021).…”

“…A vascular disruption process involving the subclavian and vertebral arteries, or their branches, is the most widely accepted nongenetic etiology hypothesis for Moebius syndrome, and aligns with the suspected etiology of Poland anomaly and Klippel‐Feil anomaly (Bavinck et al, 1986). One study demonstrated that 16% of patients with Moebius syndrome also had an upper extremity anomaly, with Poland anomaly the most commonly observed (Telich‐Tarriba et al, 2021). The vascular disruption hypothesis is further supported by animal studies demonstrating cranial nerve damage after prenatal ischemic insults, as well as evidence of brainstem calcifications on head CT scans in several children with Moebius syndrome, suggesting an ischemic event in utero (Dooley et al, 2004; Lipson et al, 1989; J. R. Miller & Myers, 1972).…”

Oral findings and comprehensive dental management of Moebius syndrome: a systematic review

“…Thus, our findings agree with what has been reported in the literature. A cross-sectional study evaluating the prevalence of upper extremity malformations in 25 patients with MS showed that the most frequent were syndactyly (32%), brachysyndactyly (20%), and amniotic band syndrome (12%) [ 39 ]. Regarding ocular manifestations, another study found a higher prevalence of esotropia, abduction limitation, and compound hypermetropic astigmatism in patients with this syndrome [ 40 ].…”