Rare association of Klippel-Feil syndrome with situs inversus totalis and review of the genetic background

Abstract

Klippel-Feil syndrome (KFS) is a rare congenital anomaly in forming the cervical vertebrae resulting in the fusion of two or more of the vertebrae. KFS is associated with many congenital anomalies, some of which are common and well known. Here, we report a child with an extremely rare association of KFS with situs inversus totalis (SIT). Both KFS and SIT are genetically heterogeneous and their co-occurrence suggests a high possibility of sharing the same underlying causative agent. Here, we review the genetic background that is known for these two conditions in the literature.

dmrt2 and myf5 Link Early Somitogenesis to Left-Right Axis Determination in Xenopus laevis

“…Intriguingly, several KFS case reports describe the concomitant occurrence of laterality defects, suggesting that somitogenesis and LR are linked in humans. Interestingly, mutations in the human GDF3 gene have been found to be causative of KFS ( Jalil et al, 2008 ; Chacón-Camacho et al, 2012 ; Futane and Salunke, 2013 ; Karaca et al, 2015 ; Abdali et al, 2021 ). Therefore, GDF3 could directly connect KFS clinical pictures to its well-established function during laterality determination.…”