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Winchester Syndrome

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Atlas of Genetic Diagnosis and Counseling

Abstract

Winchester syndrome was one of the first recognized autosomal-recessive, multicentric forms of the disorder. It was originally described nearly 50 years ago in two sisters with severe skeletal and joint deformities. Their unaffected, healthy parents were first cousins (Winchester et al. 1969). The children suffered from progressive bilateral and symmetric osteolysis of the carpals and tarsals, interphalangeal joint erosions mimicking juvenile idiopathic arthritis, generalized osteoporosis, and eventual loss of function of the larger joints, including the shoulder, elbow, hip, and knee joints.

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Authors and Affiliations

  1. Medical Genetics, Shriners Hospitals for Children, Perinatal and Clinical Genetics, Department of Pediatrics, LSU Health Sciences Center, Shreveport, LA, USA

    Harold Chen

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  1. Harold Chen
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Chen, H. (2017). Winchester Syndrome. In: Atlas of Genetic Diagnosis and Counseling. Springer, New York, NY. https://doi.org/10.1007/978-1-4939-2401-1_271

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  • DOI: https://doi.org/10.1007/978-1-4939-2401-1_271

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  • Publisher Name: Springer, New York, NY

  • Print ISBN: 978-1-4939-2400-4

  • Online ISBN: 978-1-4939-2401-1

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