<abstract xmlns="http://www.w3.org/1999/xhtml"><p> 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.</p></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.

Severe Scoliosis, Torticollis and Short Stature in a Woman with Wildervanck Syndrome (WS)/ Изразена Сколиоза, Тортиколис И Низок Раст Кај Жена Со Wildervanck Syndrome (Синдром На Вилдерванк)

Medical Faculty Skopje, Ss. Cyril and Methodius University, 50 Divizija b.b. 1000 Skopje, R. Macedonia

Macedonian Academy of Sciences and Arts, Skopje, R. Macedonia

PRILOZI

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

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...

Severe Scoliosis, Torticollis and Short Stature in a Woman with Wildervanck Syndrome (WS)/ Изразена Сколиоза, Тортиколис И Низок Раст Кај Жена Со Wildervanck Syndrome (Синдром На Вилдерванк)

Publicado en línea: 16 jun 2015

Páginas: 209 - 211

DOI: https://doi.org/10.1515/prilozi-2015-0047

© 2015

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.