Severe scoliosis, torticollis and short stature in a woman with Wildervanck syndrome (WS)

Laban, Nevenka and Tasic, Velibor and Danilovski, Dragan and Polenakovic, Momir and Gucev, Zoran (2015) Severe scoliosis, torticollis and short stature in a woman with Wildervanck syndrome (WS). Contributions. Sec. Med. Sci., 36 (1). pp. 209-211. ISSN 1857-9345

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Abstract

Wildervanck syndrome (WS) combines features of Klippel-Feil syndrome (KFS), sixth nerve palsy, and deafness. This is a case of a 23 year old woman, diagnosed with KFS (a triad of short neck, low posterior hairline and restricted neck movements) at the age of 20 days. The manifestations of the WS in this patient are severe: she has torticollis, and an extremely severe scoliosis. In addition, she is short (-3 SD; parental target height + 0.8SD) and has mixed sensorineural and conductive deafness. She also has ptosis, strabismus and a high myopia. Radiologically, there are multiple coalitions of cervical vertebrae. Intelligence is unaffected (IQ 95), but deafness, strabismus and high myopia forced her early out of school. Karyotype is 46, XX. In brief, this is a patient with severe WS and additional anomalies. Short and/or reduced parental target height is a part of WS.

Item Type: Article
Uncontrolled Keywords: Wildervanck syndrome, short stature, Duane retraction syndrome, Klippel Feil anomaly, deafness, torticollis, severe scoliosis.
Subjects: Medical and Health Sciences > Health sciences
Divisions: Faculty of Medical Science
Depositing User: Biljana Kosturanova
Date Deposited: 15 Oct 2015 09:10
Last Modified: 15 Oct 2015 09:58
URI: http://eprints.ugd.edu.mk/id/eprint/13988

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