Double outlet right ventricle and aortopulmonary window in a neonate with Bohring-Opitz (Oberklaid-Danks) syndrome: First case report.
case_report · Level V
Where this comes from
- Record sourced from PubMed, PMID 31041292.
- Also identified by DOI 10.4103/jfmpc.jfmpc_74_19 and PMC identifier 6482752.
- Licence recorded as CC BY-NC-SA.
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Abstract
Bohring-Opitz syndrome (BOS) is a rare, sporadic genetic disorder, characterized by feeding difficulties, developmental delay, flexion abnormalities, dysmorphic facial features and typical body posture (BOS posture). This syndrome is diagnosed on the basis of distinctive clinical features with or without confirmation by genetic studies. Cardiac abnormalities are seen in almost half of the patients, but are nonspecific. We present a case of a 3-week-old male baby with BOS who was referred to our hospital with congestive heart failure, seizures and failure to thrive. He was diagnosed to have double outlet right ventricle and aortopulmonary window (DORV and APW). To our knowledge, this is the first case of Bohring-Opitz Syndrome ever reported with such clinical presentation.