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Am J Med Genet A
; 117A(1): 92-6, 2003 Feb 15.
Article
in English
| MEDLINE
| ID: mdl-12548750
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.