Townes Brocks syndrome. Clinical genetics

      Аннотация: There is often limited professional knowledge, experience and awareness of the manifestations of very rare genetic disorders, and their most appropriate management because of the small number of patients having each one of them. It is generally difficult to diagnose a rare disease or disorder because it is impracticable for doctors to be familiar with thousands of rare conditions. However, the early diagnosis of rare genetic disorders plays a vital role in preventing the disorder through appropriate genetic counseling. Townes Brocks syndrome is a very rare genetic syndrome with 129 well-documented patients reported in the medical literature. Townes Brocks syndrome has not been reported before in Iraq. The main aim of this book is to describe the first case of this syndrome in Iraq which seems to be the case number 130. The book also describes the historic documentation of the syndrome in the literature.

Ключевые слова: Towns-Brocks syndrome, Imperforate anus, limb defect