title: Concurrence of multiple types of eyelid synkinesia in a patient with congenital anomalies.
abstract: We report the case of a 5-year-old boy with multiple congenital anomalies, including ptosis, polydactyly, ventricular septal defect, epilepsy, and intellectual deficits. The patient presented with synkinetic eyelid movements accompanying jaw and ocular movements, including Marcus-Gunn phenomenon (eyelid elevation at mouth opening) in the right eye, inverse Marcus-Gunn phenomenon (aggravation of ptosis at mouth opening) in the left eye, and unilateral eyelid elevation on each side during ipsilateral abduction. This suggests that the different types of synkinesia may represent a common etiology of aberrant innervations and/or reflex phenomena of the cranial nerves caused by a specific genetic defect.
authors: Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Kodaira, Tokyo 187-8551, Japan. ishiyama@ncnp.go.jp
authors: Akihiko
authors: A
authors: Ishiyama
authors: Yoshiaki
authors: Y
authors: Saito
authors: Kenji
authors: K
authors: Sugai
authors: Masayuki
authors: M
authors: Sasaki
authors: Hiroko
authors: H
authors: Yamazaki
authors: Masanori
authors: M
authors: Kohama
mesh_terms: D001763:Blepharoptosis / Q000209:etiology; D002675:Child, Preschool; D002869:Chromosome Aberrations; D004827:Epilepsy / Q000209:etiology; D005143:Eyelids / Q000503:physiopathology*; D007839:Functional Laterality / Q000502:physiology; D006330:Heart Defects, Congenital / Q000209:etiology; D006345:Heart Septal Defects, Ventricular / Q000209:etiology; D006801:Humans; D008607:Intellectual Disability / Q000209:etiology; D007569:Jaw Abnormalities / Q000209:etiology; D008279:Magnetic Resonance Imaging; D008297:Male; D009422:Nervous System Diseases / Q000209:etiology; D000857:Olfaction Disorders / Q000150:complications* / Q000473:pathology / Q000151:congenital; D012021:Reflex, Abnormal; D046608:Synkinesis / Q000209:etiology* / Q000473:pathology*; D000093922:Congenital Cranial Dysinnervation Disorders