Erscheinungsdatum: 02.01.2019, Medium: Taschenbuch, Einband: Kartoniert / Broschiert, Titel: Townes Brocks syndrome, Titelzusatz: Clinical genetics, Autor: Al Mosawi, Aamir, Verlag: LAP Lambert Academic Publishing, Sprache: Englisch, Rubrik: Medizin // Allgemeines, Lexika, Seiten: 64, Informationen: Paperback, Gewicht: 131 gr, Verkäufer: averdo
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.
Little is known about the uncommon, rare, and very rare genetic disorders in Iraq. The aim of this book is to report a study of the pattern of uncommon, rare and very rare genetic disorders observed by one pediatrician at single tertiary pediatric center during three-year period. During three-year period (2016-2018), 43 patients (29 males, 14 females) with uncommon, rare and very rare genetic disorders were observed by one pediatrician at one tertiary pediatric center. Their ages ranged from 5 days to 17 years. In this series, very rare genetic disorders in Iraq included the thirty six case of Cutis laxa type II (Debre type) in the world, the case number 104 in the world of Sanjad-Sakati-Richardson-Kirk syndrome, the case number 130 in the world of Townes Brocks syndrome, and the case number 170 in the world of Coffin Siris syndrome.