Coexistence of Klippel Feil syndrome, Poland syndrome and mirror movements: A genetic case study

Özet

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 whet-her 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 eva-luation. Right radial head was dislocated. On magnetic resonan-ce images, a syrinx was observed at the level of C6-C7 fusion. A high-resolution chromosome microarray (CMA) testing was per-formed. 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 de-letion or duplication that could be associated with phenotypic characteristics.