Moebius Syndrome Analysis

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Moebius syndrome is a rare congenital disorder first described by Paul Julius Moebius in 1888. Its estimated prevalence in the United States is reported as 0.002-0.0002% of births, or 1 case per 50,000 newborns 1, 2. The cardinal sign of Moebius Syndrome is facial paralysis. Patients with Moebius syndrome exhibit unilateral or bilateral peripheral palsy of the abducens (VI) and the facial (VII) cranial nerves. Involvement of these nerves gives these patients the characteristic mask-like face with adducted eyes and down-turned mouth angles prohibiting voluntary facial movements 3, 4 .Dysfunction of cranial nerves III through XII is common, in particular glossopharyngeus (IX) and hypoglossus (XII) 4.
This condition can be diagnosed early after
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Currently the most accepted hypothesis is a vascular disruption causing a hypoxic/ischemic insult to the brainstem in the first trimester23, 24. This can be caused by various teratogens evoking uterine contractions. The following teratogens have been described including: gestational hyperthermia 25, 26, chorionic villus sampling 27, abuse of benzodiazepines 28, alcohol 25,cocaine29, thalidomide 30, ergotamine 31 or self-induced abortion – misoprostol 32. Hypoplasia or aplasia of the nuclei can also be caused by genetic mechanisms 1, but because the majority of Moebius syndrome cases are sporadic, genetics play only a minor role. So far three different chromosomal regions for familial Moebius syndrome have been reported: MBS1 (OMIM 157900, 13q12.2-q13) 33, 34, MBS2 (OMIM 601471, 3q21-q22) and MBS3 (OMIM 604185, 10q21.3-q22.1) 35, 36.
Treatment of the Moebius syndrome patients:
Diagnostic procedure and therapeutic approaches call for a multidisciplinary engagement by a team of specialists that includes a pediatrician, a general surgeon, a plastic surgeon, an orthopedic surgeon, an oral and maxillofacial surgeon, an ophthalmologist, an otolaryngologist, occupation and physical therapists, an audiologist, a speech pathologist and a dentist. 13
According to the National Institute of Neurological Disorders and Stroke, National Institutes of Health 37 , there is no specific regimen for treatment of Moebius syndrome patients. Medical care is typically supportive and is related to symptoms. Infants may require feeding tubes or special bottles to maintain sufficient

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