Familial pseudotail, scoliosis and synpolydactyly syndrome

Abstract

Purpose

This case series describes a novel condition characterized by familial pseudotail associated with scoliosis, and synpolydactyly that has not been previously reported in literature.

Methods

The authors present three siblings and one cousin from the same family living in the northern region of the Arabian Peninsula. All cases presented with pseudotail, scoliosis, and complex synpolydactyly. The authors demonstrated complete clinical and radiological descriptions in addition the detailed performed surgeries.

Results

The histopathological result of the resected pseudotail specimens revealed bony lesion covered with thick fibrous tissue and evidence of mature adipocytes within trabecular spaces.

Conclusions

The described cases represent a novel condition that has not been previously reported in the literature. Familial pseudotail scoliosis synpolydactyly syndrome is a newly recognized form of familial pseudotail.

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Correspondence to Mohammad Alfawareh.

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None of the authors has any potential conflict of interest.

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Alfawareh, M., Orief, T. & Faqeih, E. Familial pseudotail, scoliosis and synpolydactyly syndrome. Eur Spine J 25, 167–174 (2016). https://doi.org/10.1007/s00586-015-4310-6

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Keywords

  • Familial
  • Pseudotail
  • Scoliosis
  • Synpolydactyly
  • Syndrome