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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)

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.

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A novel de novo paracentric inversion [inv(20)(q13.1q13.3)] accompanied by an 11q14.3-q21 microdeletion in a pediatric patient with an intellectual disability

important OMIM morbid gene, MAFB , missense mutations of which have been reported to be responsible for autosomal dominant multicentric carpotarsal osteolysis (MCO) [ 14 , 15 ]. Furthermore, loss of MAFB function due to mutations or whole gene deletion, has been reported in the frame of Duane retraction syndrome (DRS) with or without deafness [ 15 ]. However, these cases are actually different from our proband due to lack of most of the phenotypic characteristics of the MCO and DRS syndromes. On the other hand, one case carrying a 20q12 deletion of 2.49 Mb has been

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