Background: Moebius syndrome (MBS) is an infrequent disease, having an incidence of 1 in 10,000 births, mainly characterized by a congenital bilateral facial paralysis due to an agenesia of the sixth and seventh cranial nerves. In addition, orofacial and limb anomalies are frequently found in these patients. The diagnosis is fundamentally based on different clinical manifestations of the disorder.
Clinical Case: a female newborn with the clinical picture of Moebius syndrome is presented, and genetic or environmental aspects are discussed. Since the use of misoprostol for abortion and inducing uterine activity in combination with NSAIDs, the number of newborns with MBS associated with this drug has increased. Nowadays, either genetic or environmental factors are associated with MBS.
Conclusions: it is necessary that the general and medical community be aware of the risk of teratogenic effects of misoprostol, and the usefulness of genetic counseling whenever there is a newborn with Moebius syndrome.
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Res Dev Disabil
January 2025
School of Psychological Science, Oregon State University, 2950 SW Jefferson Way, Corvallis, OR 97331, USA. Electronic address:
Introduction: Moebius syndrome is a rare congenital disorder with frequent anecdotal reports of sleep disturbances not sufficiently categorized by prior literature. The present mixed-methods, two-phase study aimed to characterize the sleep health and symptoms of a cohort of adults and children (via parent proxies) with Moebius syndrome.
Methods: In Phase 1, participants were 46 adults with Moebius Syndrome (M=33.
J Pediatr Endocrinol Metab
January 2025
Pediatrics, Fondazione IRCCS San Gerardo Dei Tintori, Monza, Italy.
Objectives: Moebius syndrome (MS) is a rare congenital non-progressive rhombencephalic disorder mostly characterised by abducens and facial nerve palsy, but with a multifaceted clinical presentation. Isolated or multiple pituitary hormone deficiencies in the setting of MS have been occasionally reported, but the simultaneous involvement of three or more hypothalamic-pituitary axes has never been described. We hereby report the case of a girl with MS that showed a co-occurrence of GH-, TSH- and ACTH-deficiency.
View Article and Find Full Text PDFFacial Plast Surg Aesthet Med
January 2025
CENTER for Advanced Facial Plastic Surgery, Beverly Hills, CA, USA.
Sleep Med
December 2024
Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, Genoa, Italy; Child Neuropsychiatry Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
Pediatr Int
September 2024
Department of Pediatrics, Faculty of Medicine, Kagawa University, Kitagun, Kagawa, Japan.
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