| Autor: |
Laban NB; Medical Faculty Skopje, 50 Divizija b.b. 1000 Skopje, R. Macedonia., Tasic VB; Medical Faculty Skopje, 50 Divizija b.b. 1000 Skopje, R. Macedonia., Danilovski D; Medical Faculty Skopje, 50 Divizija b.b. 1000 Skopje, R. Macedonia., Polenakovic M; Macedonian Academy of Sciences and Arts, Skopje, R. Macedonia., Gucev ZS; Medical Faculty Skopje, 50 Divizija b.b. 1000 Skopje, R. Macedonia. |
| Jazyk: |
angličtina |
| Zdroj: |
Prilozi (Makedonska akademija na naukite i umetnostite. Oddelenie za medicinski nauki) [Pril (Makedon Akad Nauk Umet Odd Med Nauki)] 2015; Vol. 36 (1), pp. 209-11. |
| DOI: |
10.1515/prilozi-2015-0047 |
| Abstrakt: |
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. |
| Databáze: |
MEDLINE |
| Externí odkaz: |
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