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Zeynep Kamil Med J. 2017; 48(2): 65-70
2Zeynep Kamil Women and Children Diseases Education and Research Hospital, Department of Medical Genetics, Istanbul, Turkey
3Tekirdağ State Hospital, Department of Ophthalmology, Tekirdag, Turkey
A Case of Late Diagnosis with Rubinstein-Taybi Syndrome
Hatip Aydın1, Arda Çetinkaya2, Ali Karaman2, Mehmet Burak Mutlu2, Ümeyye Taka Aydın31Namik Kemal University, Faculty of Medicine, Department of Medical Biology, Tekirdag, Turkey2Zeynep 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
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
Corresponding Author: Hatip Aydın, Türkiye
Manuscript Language: English
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