Tetraphocomelia and bilateral cleft lip in a historical case of Roberts syndrome [Virchow, 1898]

Am J Med Genet. 1997 Oct 31;72(3):307-14. doi: 10.1002/(sici)1096-8628(19971031)72:3<307::aid-ajmg11>3.0.co;2-x.

Abstract

We discuss an unlabelled specimen of tetraphocomelia and bilaterally cleft lip from the former Virchow Museum of our Medical School. Identity of the subject with a case of what was later termed "Roberts syndrome" published by Rudolf Virchow in 1898 is demonstrated. Rediscovery of this important historical case is gratifying, since almost 95% of the specimens of Virchow's collection were lost during World War II. We have restudied Virchow's case. Recent CT scan images of the fetus are presented. We review data from the literature and present new clinical details. The fate of the original clinical data after passing through three reviews is documented briefly. We also reconstruct Virchow's view on phocomelia and its consequences for later research.

Publication types

  • Biography
  • Historical Article

MeSH terms

  • Abnormalities, Multiple / history*
  • Abnormalities, Multiple / pathology
  • Cleft Lip / history*
  • Cleft Lip / pathology
  • Ectromelia / history*
  • Ectromelia / pathology
  • History, 19th Century
  • History, 20th Century
  • Humans
  • Infant, Newborn
  • Male
  • Syndrome
  • Tomography, X-Ray Computed

Personal name as subject

  • R Virchow