Zeynep ESENER, İbrahim TEKEDERELİ

Smith-Magenis Sendrom’lu Bir Olgu

Smith-Magenis senromu SMS fasiyal dismorfizm, gelişim basamaklarında gecikme, bilişsel gerilik, karakteristik davranış paterni ve uyku bozuklukları ile karakterize genetik bir hastalıktır. Bu olgu sunumunda fasiyal dismorfizm, gelişimsel gecikme ve bilişsel gerilik nedeni ile SMS tanısı alan bir olgu sunulmuştur.

Anahtar Kelimeler:

Smith-Magenis sendromu, 17p11.2 delesyon sendromu, RAI1

A Case of Smith-Magenis Syndrome

Smith-Magenis syndrome is a genetic disorder characterized by facial dysmorphism, developmental delay, cognitive retardation, characteristic behavior pattern and sleep disturbance. In this study we report a Smith Magenis Syndrome patient with facial dysmorphism, developmental delay and cognitive retardation.

Keywords:

Smith-Magenis syndrome, 17p11.2 deletion syndrome, RAI1,

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