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Smith-Lemli-Opitz syndrome missed by physician

By John Lloyd on Jul. 24, 2007.

News sources are publishing an AP story by Mitch Stacy about a jury that found a physician liable for failing to diagnose a case of the genetic disorder Smith-Lemli-Optiz syndrome (SLOs) and awarded the parents $21 million. In his story, entitled “$21 Million Awarded for ‘Wrongful Birth,’” Mr. Stacy explains that in their suit, the parents (Daniel and Amara Estrada) claimed that Dr. Boris Kousseff (who is an expert on SLOs) and Dr. Lynda Pollack failed to diagnose the Estradas’ first child’s case of SLOs. They claimed that because Dr. Kousseff told them they could have normal children, they did not test for SLOs during a second pregnancy, and the second child was also born with SLOs.

Writing for the Tampa Bay (FL, US) Tribune under the headline, “USF , Physician Liable For Botched Diagnosis,” Thomas W. Krause gives a detailed report. Here is Mr. Krause’s lead:

A University of South Florida doctor gave Daniel and Amara Estrada the green light to go ahead with a second pregnancy even though their first child has significant birth defects.

The doctor, however, did not give the Estradas all the facts.

A jury determined the Estradas deserve $23.5 million for lifetime care of their second child, born with the same genetic disorder as their first. The award includes payment for the pain and suffering caused by the doctor’s misdiagnosis. Because USF is a government agency, the couple must petition the Legislature for the bulk of the money.

Had Boris Kousseff properly diagnosed Aiden Estrada with Smith-Lemli-Opitz syndrome, the parents would have known there was a 25 percent chance their second child would have the disorder. A simple test could have found the disorder before Caleb Estrada was born.

There are lots of interesting twists to this story. For example, Mrs. Estrada is reported to have said that had she known that their second fetus had the disorder, she would have had an abortion. State legislators, who must decide whether the full award will be honored, will surely come under substantial political pressure when the legislature hears the claim.

Link to Mr. Kruase’s story.
Link to the versions of Mr. Stacy’s story on AOL news, Comcast, Free Republic, the New York Times, and the Washington Post.
Link to the Wikipedia entry about SLOs.