A case report on Wolf-Hirschhorn syndrome

Wolf-Hirschhorn syndrome is a genetic condition that affects many systems of the human body. It caused by deletion band 4p16.3 and this may be sub microscopic. Individuals affected have special phenotype: wide bridge nose, widely spaced eyes, micrognathia, microcephaly, growth retardation, cryptorchidism, heart defects, hearing loss severe intellectual disability. A familial translocation seen in 5-13% patients. Other patients de novo deletions, usually on paternal chromosome 4, or translocations 1.6%. Prenatal diagnosis possible. We are hereby reporting case 9 months old infant who showed delayed physical neurocognitive development characteristic appearance, which led to disease.