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A Case of Klippel-Feil Syndrome combined with Duane Retraction Syndrome: Incomplete Form of Wildervanck Syndrome
Journal of the Korean Ophthalmological Society ; : 1084-1088, 2005.
Article in Korean | WPRIM | ID: wpr-33149
ABSTRACT

PURPOSE:

Klippel-Feil syndrome is defined as the congenital fusion of two or more cervical vertebrae. The clinical features are low posterior hair line, short neck, and limitation of the movement of the head and neck. Wildervanck syndrome, also known as cervicooculoacoustic syndrome, is a rare genetic disorder that primarily affects females. The disorder is characterized by Klippel-Feil syndrome, Duane syndrome and hearing impairment at birth, although one of these symptoms may be lacking. This report describes a case of Klippel-Feil syndrome combined with Duane retraction syndrome, which can be defined as an incomplete form of Wildervanck syndrome.

METHODS:

A 15-year-old girl with congenitally fused cervical vertebrae at two levels, C2-C4 vertebrae and, C5-C7 vertebrae, was diagnosed as Klippel-Feil syndrome. Ophthalmologic evaluation was needed due to abnormality in ocular motility.

RESULTS:

Ophthalmologic examination revealed a visual acuity of 0.9 without correction in both eyes. Slit-lamp and fundus examination were normal. Ocular motility examination showed 14 prism diopters right esotropia in primary gaze, limited abduction, globe retraction, and narrowing of the palpebral fissure on adduction of the right eye.
Subject(s)

Full text: Available Index: WPRIM (Western Pacific) Main subject: Spine / Visual Acuity / Cervical Vertebrae / Duane Retraction Syndrome / Esotropia / Parturition / Hair / Head / Hearing Loss / Klippel-Feil Syndrome Limits: Adolescent / Female / Humans Language: Korean Journal: Journal of the Korean Ophthalmological Society Year: 2005 Type: Article

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Full text: Available Index: WPRIM (Western Pacific) Main subject: Spine / Visual Acuity / Cervical Vertebrae / Duane Retraction Syndrome / Esotropia / Parturition / Hair / Head / Hearing Loss / Klippel-Feil Syndrome Limits: Adolescent / Female / Humans Language: Korean Journal: Journal of the Korean Ophthalmological Society Year: 2005 Type: Article