Fatih FIRINCI, Ayhan ABACI, Elçin BORA, Korcan DEMİR, Aydın ERDEMİR, TUFAN ÇANKAYA, Ece BÖBER

Sotos sendromu

Sotos sendromu, endokrin bir bozukluk olmaksızın hızlı büyümeyle karakterize bir hastalıktır. Ondört yaşında kız hasta boy uzunluğu şikâyeti nedeniyle başvurdu. Doğumda ve postnatal izlemlerinde boyunun yaşıtlarına göre üst sınırlarda olduğu öğrenilen hastanın klinik incelemelerinde mental retardasyon, makrosefali ve üst sınırda boy persentili saptandı. Bu bulgularla olguya sotos sendromu tanısı konuldu. Bu olgu sunumumuzda aşırı boy uzaması yakınması ile başvuran ve fizik muayenesinde dismorfik bulgular saptanan hastaların ayırıcı tanısında sotos sendromununun da düşünülmesinin vurgulanması istenildi. Anahtar sözcükler: Sotos sendromu, boy uzunluğu

Boy uzunluğunun nadir bir sebebi

Sotos syndrome is a disorder which is characterized by rapid growth without any endocrine defect. A 14-year-old female patient was admitted with a complaint of tall stature. Her history revealed that her height was at the upper limits compared to her peers at the time of birth and during the postnatal follow-ups. Clinical examinations showed mental retardation, macrocephaly, and a height percentile at the upper limit. Sotos syndrome was diagnosed with these clinic findings. In this case report, we aimed to stress the necessity of considering the rarely seen Sotos syndrome when making the differential diagnosis of patients who apply with the complaint of excessive growth and demonstrate dismorphic findings at the physical examination.

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