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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. © BMJ Publishing Group Limited 2021. No commercial re-use. See rights and permissions. Published by BMJ.


Husain Abdulameer Abdali, Joseph Rivendra Duddu, Mohamed Jawad Mubarak, Almughirah Salahaldin Mohamed. Rare association of Klippel-Feil syndrome with situs inversus totalis and review of the genetic background. BMJ case reports. 2021 May 12;14(5)

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PMID: 33980560

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