Authors: Jason D Flanagan, Suzanne Reuter, Patricia L Crotwell, Angela Myers, Kristen De Berg

PMID: 25906497

Publication Type: Case Reports

ISSN: 0038-3317

Journal Title: South Dakota medicine : the journal of the South Dakota State Medical Association

Publication Date: 2015 Mar


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 both babies in the 2012 report appeared to have the same condition, this current infant was found to have a normal EMG1 gene sequence, and thus, lacks the Hutterite mutation for BCS. We discuss the importance of molecular testing in the Hutterite population.

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