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Year : 2019  |  Volume : 8  |  Issue : 3  |  Page : 1279-1281

Double outlet right ventricle and aortopulmonary window in a neonate with Bohring-Opitz (Oberklaid-Danks) syndrome: First case report

1 Department of Cardiology, Ujala Superspeciality Hospital, Kashipur, Uttarakhand, India
2 Department of Paediatrics, Institute of Medical Sciences, BHU, Varanasi, Uttar Pradesh, India

Correspondence Address:
Dr. Bhupendra Verma
Department of Cardiology, Ujala Superspeciality Hospital, Kashipur - 244713, U S Nagar, Uttarakhand
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/jfmpc.jfmpc_74_19

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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.

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