Feingold Syndrome in Two Brothers,


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Uyanık B.

9. ulusal tıbbi genetik kongresi, İstanbul, Türkiye, 1 - 05 Aralık 2010, cilt.78, ss.35

  • Yayın Türü: Bildiri / Tam Metin Bildiri
  • Cilt numarası: 78
  • Doi Numarası: 10.1111/j.1399-0004.2010.01558.x
  • Basıldığı Şehir: İstanbul
  • Basıldığı Ülke: Türkiye
  • Sayfa Sayıları: ss.35

Özet

A – Dysmorphology and Multiple Anomalies A69 FEINGOLD SYNDROME IN TWO BROTHERS 1 E Bora, 1 B Uyanık, 1 T C¸ ankaya, 1 D Erc¸al, 2 K Atila, 2 S Bora 1 Department of Medical Genetics, Dokuz Eylul University Faculty of Medicine, Izmir, Turkey; 2 Department of General Surgery, Dokuz Eylul University Faculty of Medicine, Izmir, Turkey Feingold syndrome (FS) is a dominantly inherited disease, combination of microcephaly with or without learning disabilities, extremity abnormalities, short palpebral fissures and esophageal/duodenal atresia. Approximately 60% of individuals with FS have an affected parent and caused by mutation in the MYCN gene, locus at 2p24.1. Our patient is 24-year-old male from unrelated parents and pictured microcephaly, upslanting palpebral fissures, mild palpebral phimosis, small ear lobules, micrognathia, 2nd and 5th fingers brachymesophalangy, 5th finger clinodactyly, 2th-3th toes’ cutaneous syndactyly, clubbing fingernails, thenar and hypothenar atrophy, evanescenced dermatoglyphics on hand. According to the neuro-developmental examination; the patient showed mild mental retardation and learning disability. As a gastro-intestinal complaint, vomiting has been started at the age of five. Endoscopy and thorax CT showed the diameter was 2–3 mm in esophageal lumen and C2–C3 vertebral fusion defect. He was diagnosed as Feingold syndrome. The existence of similar clinical findings in his elder brother was also learned and considered as the same entity. We described two brothers with Feingold syndrome according to the clinical findings and presented since the syndrome is rare and they are the second and third cases from Turkey. Further clinical and molecular investigations are also planned.