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Verma B, Abhinay A, Singh A, et al. Double outlet right ventricle and aortopulmonary window in a neonate with Bohring-Opitz (Oberklaid-Danks) syndrome: First case report. J Family Med Prim Care. 2019;8(3):1279-1281doi: 10.4103/jfmpc.jfmpc_74_19.
Verma, B., Abhinay, A., Singh, A., & Kumar, M. (2019). Double outlet right ventricle and aortopulmonary window in a neonate with Bohring-Opitz (Oberklaid-Danks) syndrome: First case report. Journal of family medicine and primary care, 8(3), 1279-1281. https://doi.org/10.4103/jfmpc.jfmpc_74_19
Verma, Bhupendra, et al. "Double outlet right ventricle and aortopulmonary window in a neonate with Bohring-Opitz (Oberklaid-Danks) syndrome: First case report." Journal of family medicine and primary care vol. 8,3 (2019): 1279-1281. doi: https://doi.org/10.4103/jfmpc.jfmpc_74_19
Verma B, Abhinay A, Singh A, Kumar M. Double outlet right ventricle and aortopulmonary window in a neonate with Bohring-Opitz (Oberklaid-Danks) syndrome: First case report. J Family Med Prim Care. 2019 Mar;8(3):1279-1281. doi: 10.4103/jfmpc.jfmpc_74_19. PMID: 31041292; PMCID: PMC6482752.
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J Family Med Prim Care. 2019 Mar;8(3):1279-1281. doi: 10.4103/jfmpc.jfmpc_74_19.

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

Journal of family medicine and primary care

Bhupendra Verma, Abhishek Abhinay, Amrita Singh, Manu Kumar

Affiliations

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

PMID: 31041292 PMCID: PMC6482752 DOI: 10.4103/jfmpc.jfmpc_74_19

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.

Keywords: Cardiac abnormalities; congenital heart disease; dysmorphism; flexion abnormalities; trigonocephaly

Conflict of interest statement

There are no conflicts of interest.

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