E-ISSN 2757-8062
Volume : 48 Issue : 2 Year : 2022

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Zeynep Kamil Medical Journal
A Case of Late Diagnosis with Rubinstein-Taybi Syndrome [Zeynep Kamil Med J]
Zeynep Kamil Med J. 2017; 48(2): 65-70

A Case of Late Diagnosis with Rubinstein-Taybi Syndrome

Hatip Aydın1, Arda Çetinkaya2, Ali Karaman2, Mehmet Burak Mutlu2, Ümeyye Taka Aydın3
1Namik Kemal University, Faculty of Medicine, Department of Medical Biology, Tekirdag, Turkey
2Zeynep Kamil Women and Children Diseases Education and Research Hospital, Department of Medical Genetics, Istanbul, Turkey
3Tekirdağ State Hospital, Department of Ophthalmology, Tekirdag, Turkey

Rubinstein-Taybi syndrome (RSTS) is a rare genetic disorder, characterized by distinctive facial features, short stature, moderate
to severe intellectual disability, and broad thumbs and first toes. It is important to establish an early diagnosis for these patients in
order to ascertain accurate solutions for the problems they face in the early stages of life. In this report, we present a case with a late diagnosis of RSTS

Keywords: rubinstein-taybi sendromu, developmental disability, early diagnosis

Hatip Aydın, Arda Çetinkaya, Ali Karaman, Mehmet Burak Mutlu, Ümeyye Taka Aydın. A Case of Late Diagnosis with Rubinstein-Taybi Syndrome. Zeynep Kamil Med J. 2017; 48(2): 65-70

Corresponding Author: Hatip Aydın, Türkiye
Manuscript Language: English
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