Research Information System
9. Ulusal Tıbbi genetik Kongresi, İstanbul, Turkey, 1 - 05 December 2010, pp.35
FEINGOLD SYNDROME IN TWO BROTHERS1E Bora,1B Uyanık,1TC ̧ ankaya,1D Erc ̧al,2K Atila,2SBora1Department of Medical Genetics, Dokuz Eylul UniversityFaculty of Medicine, Izmir, Turkey;2Department of General Sur-gery, Dokuz Eylul University Faculty of Medicine, Izmir, TurkeyFeingold syndrome (FS) is a dominantly inherited disease,combination of microcephaly with or without learning disabili-ties, extremity abnormalities, short palpebral fissures andesophageal/duodenal atresia. Approximately 60% of individu-als with FS have an affected parent and caused by mutation inthe MYCN gene, locus at 2p24.1. Our patient is 24-year-oldmale from unrelated parents and pictured microcephaly, up-slanting palpebral fissures, mild palpebral phimosis, small earlobules, micrognathia, 2nd and 5th fingers brachymesopha-langy, 5th finger clinodactyly, 2th-3th toes’ cutaneous syndac-tyly, clubbing fingernails, thenar and hypothenar atrophy,evanescenced dermatoglyphics on hand. According to theneuro-developmental examination; the patient showed mildmental retardation and learning disability. As a gastro-intesti-nal complaint, vomiting has been started at the age of five.Endoscopy and thorax CT showed the diameter was 2–3 mmin esophageal lumen and C2–C3 vertebral fusion defect. Hewas diagnosed as Feingold syndrome. The existence of similarclinical findings in his elder brother was also learned and con-sidered as the same entity. We described two brothers withFeingold syndrome according to the clinical findings and pre-sented since the syndrome is rare and they are the second andthird cases from Turkey. Further clinical and molecular inves-tigations are also planned.