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- Title
Bowen-Conradi Syndrome: A Trisomy 18-like Autosomal Recessive Disorder Common in Hutterites.
- Authors
Torbert, Nic; Reuter, Suzanne; Myers, Angela; De Berg, Kristen; Crotwell, Patricia L.; Flanagan, Jason D.
- Abstract
Bowen-Conradi syndrome (BCS) is a common lethal condition amongst infants of Hutterite ancestry. We describe a newborn infant with features of BCS, which may mimic trisomy 18 and other conditions such as cerebro-oculo-facial syndrome (COFS) and CHARGE syndrome. We describe the constellation of clinical findings in BCS. We believe this is the first case of BCS clinically confirmed by molecular testing for mutation in the EMG1 gene.
- Subjects
CHARGE syndrome; TRISOMY 18 syndrome
- Publication
South Dakota Medicine, 2015, Vol 68, Issue 2, p65
- ISSN
0038-3317
- Publication type
Case Study