Coexistence of klippel feil syndrome, Poland syndrome and mirror movements: A genetic case study Klippel feil sendromu, Poland sendromu ve ayna hareketlerinin birlikteliği: Bir genetik olgu çalışması

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Şener U., Altungöz O., Tahta M., Şener M., Günal I.

Medeniyet medical journal, vol.33, no.3, pp.252-256, 2018 (Scopus) identifier

  • Publication Type: Article / Article
  • Volume: 33 Issue: 3
  • Publication Date: 2018
  • Doi Number: 10.5222/mmj.2018.75547
  • Journal Name: Medeniyet medical journal
  • Journal Indexes: Scopus, TR DİZİN (ULAKBİM)
  • Page Numbers: pp.252-256
  • Keywords: Klippel feil syndrom, Mirror movement, Poland syndrom
  • Dokuz Eylül University Affiliated: Yes


© 2018, Logos Medical Publishing. All rights reserved.Coexistence of Klippel Feil syndrome, Poland syndrome and mirror movements have not been reported before. We aimed to report a patient with such coexistence and examined whether there is a possible genetic background of this association. A 19-year-old male patient presented with the absence of right thumb and deformity at the elbow. Right pectoral muscle mass was markedly smaller than left. There was a high scapula on the right side. Mirror movements were observed in neurological evaluation. Right radial head was dislocated. On magnetic resonance images, a syrinx was observed at the level of C6-C7 fusion. A high-resolution chromosome microarray (CMA) testing was performed. Small segmental de novo variations were detected. The largest gene spanning variation did not exceed 287 kb and none of the detected variations was known to be disease-associated or candidate to explain the phenotypic features according to The International Standard Cytogenomic Array (ISCA) criteria. Since our case is sporadic with multiple congenital abnormalities, we performed high-resolution chromosome microarray analysis to rule out genomic imbalance and did not find any significant deletion or duplication that could be associated with phenotypic characteristics.