Open AccessDouble outlet right ventricle and aortopulmonary window in a neonate with Bohring-Opitz (Oberklaid-Danks) syndrome: First case report
Author(s) -
Bhupendra Verma,
Abhishek Abhinay,
Amrita Singh,
Manoj Kumar
Publication year - 2019
Publication title -
journal of family medicine and primary care
Language(s) - English
Resource type - Journals
eISSN - 2278-7135
pISSN - 2249-4863
DOI - 10.4103/jfmpc.jfmpc_74_19
Subject(s) - medicine , double outlet right ventricle , failure to thrive , ventricle , heart failure , presentation (obstetrics) , pediatrics , genetic disorder , cardiology , surgery , disease
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.