Coffin Siris syndrome: Clinical genetics

Coffin Siris syndrome is very rare genetic syndrome.During the 1970s, there were 13 reported patients with Coffin Siris syndrome including three patients reported by Coffin and Siris ,1970; two patients reported by Weiswasser et al ,1973; one patient reported by Mastroiacovo et al ,1977; one patient reported by Tunnessen and colleagues ,1978; one patient reported by Schinzel, 1979; and five patients reported by Carey and Hall ,1978.During the 1980s, there were eighteen reported patients with Coffin Siris syndrome including one patient reported by Ueda et al ,1980; four patients reported by Lucaya et al ,1981, one patient reported by Foasso et al ,1983; two patients reported by Haspeslagh and colleagues, 1984; one patient reported by DeBassio et al and colleagues, 1985; two patients reported by Franceschini et al,1985; one patient reported by Meinecke and colleagues, 1986; two patients reported by Bodurtha et al, 1986; one patient reported by Patel et al ,1987;Alembik et al,1988; and one patient reported by Rogers et al, 1988.During the 1990s, there were twenty four reported patients with Coffin Siris syndrome including one patient reported by Qazi et al, 1990; one patient reported by Burlina and colleagues,1990;two patients reported by Levy and Baraitser,1991; two patient reported by de Jong and Nelson,1992; one patient reported by Bonioli et al ,1995; one patient reported by Imaizumi et al ,1995; twelve patients reported by Swillen et al,1995; one patient reported by Braun-Quentin and colleagues,1996; one patient reported by Suzumura et al ,1996; one patient reported by McPherson et al ,1997; one patient reported by Delvaux and colleagues,1998).During the 2000s, there were thirty four reported patients with Coffin Siris syndrome including one patient reported by McGhee et al ,2000; one patient reported by Dimaculangan et al , 2000; eighteen patients reported by Fleck et al ,2001; one patient reported by Imai et al (2001); Brunetti-Pierri and colleagues,2003; one patient reported by Silvani et al ,2004; one patient reported by Shirakami et al ,2005; one patient reported by Al Mosawi AJ,2006; one patient reported by Kellermayer et al ,2007; one patient reported by Fornet et al ,2007; one patient reported by Baban et al ,2008; one patient reported by Pollono et al ,2009; one patient reported by Coulibaly et al ,2010; one patient reported by Goyal et al ,2010.After 2010, there were eighty reported patients with Coffin Siris syndrome including one patient reported by Bender et al ,2011; three patients reported by Santen GW et al ,2012; five patients reported by Tsurusaki et al , 2012; two patients reported by Tsurusaki et al , 2014; One patient reported by Tzeng et , 2014; forty nine patients reported by Tsurusaki et al , 2014; Nemani et al ,2014; One patient reported byGossai et al ,2015; Seven patients reported by Hempel et al,2016; One patient reported by Sonmez et al ,2016; three patients reported by Zarate et al, 2016; One patient reported by Ozkan et al ,2017; One patient reported by Errichiello et al ,2017; One patient reported by Okamoto et al ,2018; One patient reported by Sweeney et al ,2018; Määttänen et al ,2018; Zhao et al ,2018.THE TOTAL NUMBER OF THE REPORTED PATIENTS WITH COFFIN SIRIS SYNDROME IS 169Coffin Siris syndrome has been reported only once in Iraq. The first Iraq patient with Coffin Siris syndrome (Al Mosawi AJ,2006) was also the first patient in the Arab.The main aim of this book is to describe the second case of this syndrome in Iraq which is also the case number 170 in the world. The book also describes the historic documentation of the syndrome in the literature.

• | Author: Aamir Al Mosawi
• | Publisher: CreateSpace Independent Publishing Platform
• | Publication Date: Nov 22, 2018
• | Number of Pages: 56 pages
• | Language: English
• | Binding: Paperback
• | ISBN-10: 1729822800
• | ISBN-13: 9781729822807