Nail-Patella Syndrome

  • Harold ChenEmail author
Living reference work entry


In 1820, Chatelain (1951) first observed the nail-patella syndrome in a patient with a triad of abnormal nails, elbows, and knees. The hereditary nature of the syndrome was first described by Pye-Smith in 1883 in the English literature. The presence of iliac horns was first noted by Kieser (1939) in 1939 and later by Fong (1946) in 1946. In 1948, Mino et al. described the tetrad of abnormal nails, elbows, knees, and iliac horns for which the name hereditary onycho-osteodysplasia was coined by Duncan and Souter in 1963.


Radial Head Club Foot Preimplantation Genetic Diagnosis Patella Dislocation Facial Dysmorphism 
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© Springer Science+Business Media New York 2016

Authors and Affiliations

  1. 1.Medical GeneticsShriners Hospitals for ChildrenShreveportUSA
  2. 2.Perinatal and Clinical Genetics, Department of PediatricsLSU Health Sciences CenterShreveportUSA

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