An Uncommon Presentation of Bohring-Opitz Syndrome in a 2 Week-Old Newborn Female

Bohring-Opitz Syndrome (BOS) is a rare genetic syndrome that was first described by Bohring et al in 1999. He reported 2 cases of infants with Opitz trigonocephaly (C)-like syndrome as well as 2 similar published cases previously assumed to have C syndrome. BOS has been associated with distinct facial characteristics such as prominent metopic suture, exophthalmos, hypertelorism, cleft lip and palate, microcephaly, intrauterine growth retardation, feeding difficulties, flexion deformities of the upper limbs (referred to as ‘BOS posture'), among other anomalies. We present the case of a 2 week old baby girl with BOS who was transferred to our facility with congestive heart failure (CHF) secondary to a large anterior VSD, ASD, with elevated transaminases. To our knowledge, this is the first case of Bohring-Opitz Syndrome ever reported with such clinical presentation.