Autopsy on a case of Roberts syndrome reported in 1672: the earliest description?

Abstract

In 1672, François Bouchard reported the autopsy of a male infant discovered on public exhibition at Leiden. The findings of tetraphocomelia more severe in the upper limbs with reduction in the number and length of digits, hydrocephalus, bilateral cleft lip, micrognathia, and cryptorchidism are consistent with a diagnosis of Roberts syndrome. Bouchard did not find internal abnormalities other than hydrocephalus, which he attempted to demonstrate by showing decreased specific gravity of the brain. Death was due to umbilical vein hemorrhage following birth trauma.

• Authors: A W Bates
• Journal: American journal of medical genetics. Part A (Am J Med Genet A) Vol. 117A Issue 1 Pg. 92-6 (Feb 15 2003) ISSN: 1552-4825 [Print] United States
• PMID: 12548750 (Publication Type: Biography, Classical Article, Historical Article, Journal Article)
• Copyright: Copyright 2002 Wiley-Liss, Inc.

Topics

• Abnormalities, Multiple (history, pathology)
• Cleft Palate (history, pathology)
• Ectromelia (history, pathology)
• History, 17th Century
• Humans
• Hydrocephalus (history, pathology)
• Infant, Newborn
• Male
• Medical Illustration
• Micrognathism (history, pathology)
• Syndrome