title: Association of aortic arch anomalies and subclavian artery supply disruption with neurofibromatosis.
abstract: We report an 8-year-old Japanese girl with von Recklinghausen disease, who presented with aortic arch anomalies and left hemilateral oculo-otolaryngeal abnormalities including strabismus, blepharoptosis, a dysplastic external ear and hearing loss. The aortic arch anomalies including subclavian artery obstruction that appeared to be a consequence of the neurofibromatosis, and the hemilateral oculo-otolaryngeal abnormalities could be explained by disruption of the subclavian artery supply during embryogenesis.
authors.affiliation: Department of Pediatrics, Shiga University of Medical Science, Seta, Otsu, Shiga 520-2192, Japan. masao@belle.shiga-med.ac.jp
authors.forename: Masao
authors.initials: M
authors.lastname: Nakagawa
authors.forename: Yu
authors.initials: Y
authors.lastname: Osawa
authors.forename: Takashi
authors.initials: T
authors.lastname: Hanato
authors.forename: Hidetoshi
authors.initials: H
authors.lastname: Fujino
authors.forename: Noriko
authors.initials: N
authors.lastname: Watanabe
authors.forename: Yoshihiro
authors.initials: Y
authors.lastname: Takeuchi
mesh_terms: D000015:Abnormalities, Multiple; D001013:Aorta, Thoracic / Q000002:abnormalities*; D001763:Blepharoptosis / Q000209:etiology; D006328:Cardiac Catheterization; D002648:Child; D005260:Female; D034381:Hearing Loss / Q000209:etiology; D006801:Humans; D007830:Larynx / Q000002:abnormalities; D009456:Neurofibromatosis 1 / Q000150:complications / Q000175:diagnosis* / Q000473:pathology; D013902:Radiography, Thoracic; D013285:Strabismus / Q000209:etiology; D013348:Subclavian Artery / Q000002:abnormalities*; D013349:Subclavian Steal Syndrome / Q000175:diagnosis* / Q000209:etiology; D014057:Tomography, X-Ray Computed