title: Severe scoliosis, torticollis and short stature in a woman with Wildervanck Syndrome (WS).
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.
authors.affiliation: Medical Faculty Skopje, 50 Divizija b.b. 1000 Skopje, R. Macedonia.
authors.forename: N B
authors.initials: NB
authors.lastname: Laban
authors.affiliation: Medical Faculty Skopje, 50 Divizija b.b. 1000 Skopje, R. Macedonia.
authors.forename: V B
authors.initials: VB
authors.lastname: Tasic
authors.affiliation: Medical Faculty Skopje, 50 Divizija b.b. 1000 Skopje, R. Macedonia.
authors.forename: D
authors.initials: D
authors.lastname: Danilovski
authors.affiliation: Macedonian Academy of Sciences and Arts, Skopje, R. Macedonia.
authors.forename: M
authors.initials: M
authors.lastname: Polenakovic
authors.affiliation: Medical Faculty Skopje, 50 Divizija b.b. 1000 Skopje, R. Macedonia.
authors.forename: Z S
authors.initials: ZS
authors.lastname: Gucev
mesh_terms: D020434:Abducens Nerve Diseases / Q000175:diagnosis*; D000015:Abnormalities, Multiple / Q000175:diagnosis*; D003638:Deafness / Q000175:diagnosis*; D004370:Duane Retraction Syndrome / Q000175:diagnosis*; D005260:Female; D006130:Growth Disorders / Q000175:diagnosis*; D006330:Heart Defects, Congenital / Q000175:diagnosis*; D006344:Heart Septal Defects, Atrial / Q000175:diagnosis*; D006801:Humans; D007714:Klippel-Feil Syndrome / Q000175:diagnosis*; D038061:Lower Extremity Deformities, Congenital / Q000175:diagnosis*; D012600:Scoliosis / Q000175:diagnosis*; D012720:Severity of Illness Index; D014103:Torticollis / Q000175:diagnosis*; D038062:Upper Extremity Deformities, Congenital / Q000175:diagnosis*; D055815:Young Adult