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Rare association of Klippel-Feil syndrome with situs inversus totalis and review of the genetic background
  1. Husain Abdulameer Abdali,
  2. Joseph Rivendra Duddu,
  3. Mohamed Jawad Mubarak and
  4. Almughirah Salahaldin Mohamed
  1. Department of Neuroscience - Neurosurgery, Salmaniya Medical Complex, Manama, Bahrain
  1. Correspondence to Dr Husain Abdulameer Abdali; has2222{at}


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.

  • genetics
  • orthopaedics
  • paediatrics
  • developmental paediatrocs

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  • Contributors This case is under the care of JRD and his follow-up and also written under his supervision. Clinical history and examination were conducted by HAA. Literature review and case dissuasion were done by HAA and MJM. ASM obtained the images.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Competing interests None declared.

  • Provenance and peer review Not commissioned; externally peer reviewed.

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