Author/Authors
HAZAN, Filiz Dr. Behçet Uz Çocuk Sağlığı ve Hastalıkları Eğitim ve Araştırma Hastanesi - Tıbbi Genetik Kliniği, Türkiye , APA, Hurşit Dr. Behçet Uz Çocuk Sağlığı ve Hastalıkları Eğitim ve Araştırma Hastanesi - Pediatri Kliniği, Türkiye , DEMİR, Korcan Dokuz Eylül Üniversitesi - Tıp Fakültesi - Pediatrik Endokrinoloji Anabilim Dalı, Türkiye , BÖBER, Ece Dokuz Eylül Üniversitesi - Tıp Fakültesi - Pediatrik Endokrinoloji Anabilim Dalı, Türkiye , ÖZKINAY, Ferda Ege Üniversitesi - Tıp Fakültesi - Tıbbi Genetik Anabilim Dalı, Türkiye
Title Of Article
Silver-Russell Syndrome: A Case Report
شماره ركورد
17378
Abstract
Silver-Russell syndrome is an inherited disease that is characterized by intrauterine and postnatal growth retardation, relative macrocephaly, triangular face, body asymmetry and clinodactyly of the 5th finger, Hypomethylation of the imprinting control region that is localized in chromosomal region 11p15 is responsible for 35-65% of the cases. We present here a case that has phenotypic characteristics of Silver-Russell syndrome and growth hormone deficiency, and a definitive diagnosis made with determination of imprinting control region hypomethylation.
From Page
60
NaturalLanguageKeyword
Silver , Russell , Syndrome , Imprinting control region , Hypomethylation , Growth hormone
JournalTitle
Fırat Medical Journal
To Page
62
JournalTitle
Fırat Medical Journal
Link To Document