Article
A Hutterite condition that mimics Bowen-Conradi syndrome.
South Dakota medicine : the journal of the South Dakota State Medical Association - 1 Mar 2015
Flanagan Jason D, Reuter Suzanne, Crotwell Patricia L, Myers Angela, De Berg Kristen
Abstract excerpt
Bowen-Conradi syndrome (BCS) is a common autosomal recessive condition in the Hutterite population. In 2012, when BCS clinical testing was not available, we reported two babies believed to have BCS based upon their clinical features. Diagnostic molecular testing is now available for this condition. We describe here a brother born to the parents of one of the infants in our previous report. Although clinically...
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