Clinical and Cytogenetic Study in Patients with Möbius Syndrome at the General Hospital
Pablo Arrieta-Joffe, MD1; Marcia Perez-Dosal, MD1; Gabriela Ortíz de Zarate, MD2; Alexander Cardenas-Mejia, MD1
1Plastic and Reconstructive Surgery, Hospital General "Dr. Manuel Gea González", Mexico City; 2Genetics, Hospital General, Mexico City
Introduction: Möbius syndrome is a rare congenital disease characterized by facial paralysis associated with an absence of abduction of the eyes for abnormalities in Vi and VII cranial nerves. The pathogenesis has different hypothesis that incluce genetic, vascular and teratogenic causes. There are few reports in the literature and especially in Latin America to describe the clinical and genetic characteristics of these patients.
Methology: We analyzed 92 patients with the diagnosis of Möbius syndrome in its 3 presentations. All patients underwent a complete clinical examination by a multidisciplinary team formed by orthopedist, ophthalmologist, otolaryngologist, orthodontist, neurologist, plastic surgeon, pediatrician and geneticist. They underwent CTG banded karyotype to identify structural chromosome abnormalities.
Results: Thirty-nine patients (42%) patients were male and 52 (58%) female . Clinical manifestations were found with unilateral or bilateral facial paralysis with VI nerve involvement in 100% of patients, associated with strabismus in 58.8 % , 35.29 % clubfoot, simple syndactyly 19.61 % , 13.73% cleft palate , micrognathia 13.73% , Poland syndrome 11.7 % , among others. Cytogenetic analysis showed normal karyotype in 91 patients and a reciprocal translocation between chromosome 4 and 10 in one patient. Eleven cases of reported intake of misoprostol during the first trimester.
Conclusions: So far this study is the largest global cohort reported in a single hospital of patients with Möbius syndrome. Variability of the clinical presentation justifies the management of these patients is a multidisciplinary team. This study opens the door for new studies that allow us to understand the pathophysiology of this disease and its response to different treatments. Keywords: Moebius syndrome, Möbius syndrome, facial nerve, congenital facial palsy, abducens nerve.
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