title: CHARGE syndrome with oculomotor nerve palsy.
abstract: CHARGE syndrome is a congenital disorder characterized by coloboma, heart defects, atresia of the choanae, retarded growth, genital hypoplasia, ear anomalies, and/or hearing loss. We report the case of a 2-year-old boy with CHARGE syndrome who presented with left exotropia and elevation deficit since infancy. He had patent ductus arteriosus, small testicles, growth retardation, auricular deformity, left semicircular canal aplasia, and a de novo nonsense mutation (p.Ser705X) of the CHD7 gene. He had a left exotropia of 40 prism diopters, marked limitation of upgaze and mild limitation of downgaze and adduction in the left eye. On upgaze, his left eye adducted but did not elevate. The pupils of both eyes were round and isocoric. Fundus examination revealed optic disk and choroidal colobomas. CHARGE syndrome with oculomotor nerve palsy has not been reported previously.
authors.affiliation: Department of Ophthalmology, Seoul National University Bundang Hospital, Seongnam, Korea.
authors.forename: Hee Kyung
authors.initials: HK
authors.lastname: Yang
authors.affiliation: Department of Otorhinolaryngology-Head and Neck Surgery, Seoul National University Bundang Hospital, Seongnam, Korea.
authors.forename: Byung Yoon
authors.initials: BY
authors.lastname: Choi
authors.affiliation: Radiology, Seoul National University College of Medicine, Seoul National University Bundang Hospital, Seongnam, Korea.
authors.forename: Jae Hyoung
authors.initials: JH
authors.lastname: Kim
authors.affiliation: Department of Otorhinolaryngology-Head and Neck Surgery, Seoul National University Bundang Hospital, Seongnam, Korea.
authors.forename: Ja-Won
authors.initials: JW
authors.lastname: Koo
authors.affiliation: Department of Otorhinolaryngology-Head and Neck Surgery, Seoul National University Bundang Hospital, Seongnam, Korea.
authors.forename: Mun Young
authors.initials: MY
authors.lastname: Chang
authors.affiliation: Department of Ophthalmology, Seoul National University Bundang Hospital, Seongnam, Korea. Electronic address: hjm@snu.ac.kr.
authors.forename: Jeong-Min
authors.initials: JM
authors.lastname: Hwang
mesh_terms: D058747:CHARGE Syndrome / Q000150:complications* / Q000235:genetics; D015820:Cadherins / Q000235:genetics; D002675:Child, Preschool; D018389:Codon, Nonsense; D005099:Exotropia / Q000175:diagnosis / Q000209:etiology*; D006801:Humans; D008297:Male; D015840:Oculomotor Nerve Diseases / Q000175:diagnosis / Q000209:etiology*
chemical_list: C121291:CDH7 protein, human; D015820:Cadherins; D018389:Codon, Nonsense