The eye - the window to the soul of the diagnosis: CHARGE Syndrome, a case report

The modality of inheritance in CHARGE syndrome is autosomal dominant, classically triggered by mutations the chromo-domain helicase DNA binding protein-7 (CHD7) gene. characterized variable occurrence coloboma, heart defects, atresia choanae, retarded growth and development, genital hypoplasia, ear anomalies deafness. In this report, we describe an infant with a typical phenotype severe psychomotor retardation, facial asymmetry, cortical blindness, unilateral choanal atresia, congenital anomalies, cranial nerve IX/X dysfunction global developmental delay that was diagnosed clinically. Following clinical diagnosis complete sequencing CHD7 gene carried out at Institute for Medical Diagnostics GmbH Ingelheim, Germany. Genomic screened CD7 (OMMIM 608892) on chromosome 8q12.1 codon exon 2-38 respective exon-intron boundaries were amplified polymerase chain reaction analysed direct sequencing. Resulting sequence data compared reference NM_017880.3 No mutation detected as genetic cause patient. MPLA multiplex ligation-dependent probe amplification analysis showed no copy number variation This case report underscores importance detailed family history physical examination syndrome. Additionally, it provides valuable insight into pathogenesis presentation well highlighting benefits multidisciplinary approach. With supportive nurturing care, children can overcome associated disabilities develop necessary motor skills life-style enhancing level fitness.