Recently the Driscoll Children’s Hospital CORPUS CHRISTI, Texas, USA published the pediatric Case Report “An Uncommon Presentation of Bohring-Opitz Syndrome in a 2 Week-Old Newborn Female” in Austin Publishing.
The patient was transferred to neonatal intensive care unit for evaluation of atrial and ventricular septal defects (ASD and VSD respectively) with congestive heart failure (CHF), intrauterine growth retardation (IUGR) and dysmorphic features. Her clinical presentation corresponds with the diagnostic criteria of Bohring-Opitz Syndrome (BOS), but complete ASXL1 sequencing identified no mutations on the ASXL1 gene. The authors Gonzalez de Alba, Berganza, Sawhney and Ojadi point out that “… it is difficult to establish the significance of other abnormalities [like cardiac defects] as unique to BOS or as manifestations of concomitant conditions …” since the number of children with BOS reported in the medical literature is still too small.
» Gonzalez de Alba CE, Berganza FM, Sawhney R and Ojadi V: An Uncommon Presentation of Bohring-Opitz Syndrome in a 2 Week-Old Newborn Female. Austin Pediatr. 2016; 3(3): 1035.