ASD with the Bor Syndrome: A Case Report

The branchio-auto-renal (BOR) syndrome that firstly described by Melnick is a syndrome with renal hypoplasia, hearing loss, and brankial arc defects.1,2 It has been seen approximately 1 in 40,000 births.3 Phenotypic anomalies that seen more than 20% of individuals with BOR syndrome are classified as major and less than 20% of individuals are classified as minor. Hearing loss and preauricular pitting are the most common clinical features. Renal anomalies (~%65), branchial cleft fistulae (~%50), lop ear deformity (~%35), and stenotic external auditory canals (~%30) are also common. Minor anomalies include preauricular tag, lacrimal duct aplasia, short palate, retrognathia, benign intracranial tumor, cleft palate, congenital hip dysplasia, euthyroid goiter, facial nerve paresis, gustatory lacrimation, non-rotation of the gastrointestinal tract, pancreatic duplication cyst, temporoparietal linear nevus.4 If the family history exists, a single major criterion is sufficient for diagnosis of BOR syndrome. Three major criteria or two major and two minor criteria are required for diagnosis without family history.5,6 The Autism Spectrum Disorder (ASD) is characterized by persistent inadequacies in communication, and repetitive, restricted, stereotypic behavior and the presence of information, and is classified as one of neurodevelopmental disorders in DSM-5.7 The twin studies that started and continued with Folstein and Rutter for the biological mechanisms of the ASD in 1977 show that autism has an important genetic component.8–13 Although because of the progress that has been made in advancing new genetic technologies, progress in investigating the genetic etiology of ASD in the last 10–15 years,14–16 the genetic cause of the majority of ASD cases (> 75%) is still unknown.