title: A case of Moebius syndrome presenting with congenital bilateral vocal cord paralysis.
abstract: We describe a female infant with bilateral facial paralysis and abducens palsy. To the best of our knowledge, this is the first report of Moebius syndrome presenting with congenital bilateral vocal cord paralysis (CBVCP). Although CBVCP can be part of a recognizable syndrome, i.e. Down syndrome, 22q deletion syndrome, Robinow's syndrome and cerebro-oculo-facio-skeletal syndrome, no reports of Moebius syndrome with CBVCP were found in the literature. CBVCP is often associated with central nervous system abnormalities. However, our patient had no detectable brain abnormalities. The etiology of Moebius syndrome remains unknown. It is interesting that the clinical manifestations of Moebius syndrome can include CBVCP. However, the pathophysiology of CBVCP is unknown and further investigations into the etiology of Moebius syndrome are required.
authors.affiliation: Department of Pediatrics, Institute of Clinical Medical Sciences, University of Tsukuba, 2-1-1 Amakubo, Tsukuba, Ibaraki, 305-8576, Japan. nandkkanemoto@yahoo.co.jp
authors.forename: Nobuko
authors.initials: N
authors.lastname: Kanemoto
authors.forename: Katsuyoshi
authors.initials: K
authors.lastname: Kanemoto
authors.forename: Tomohiro
authors.initials: T
authors.lastname: Kamoda
authors.forename: Makoto
authors.initials: M
authors.lastname: Hasegawa
authors.forename: Tadao
authors.initials: T
authors.lastname: Arinami
mesh_terms: D000927:Anticonvulsants / Q000009:adverse effects; D004827:Epilepsy / Q000188:drug therapy; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007555:Isoxazoles / Q000009:adverse effects; D020331:Mobius Syndrome / Q000139:chemically induced / Q000150:complications* / Q000175:diagnosis; D011247:Pregnancy; D011248:Pregnancy Complications; D014826:Vocal Cord Paralysis / Q000209:etiology*; D000078305:Zonisamide
chemical_list: D000927:Anticonvulsants; D007555:Isoxazoles; D000078305:Zonisamide