Güler Burcu SENİRKENTLİ, Resmiye Ebru TİRALİ, Didem SAKARYALI

Sotos Sendromu: Bir Vaka Sunumu

Sotos sendromu, çocukluk döneminde endokrin bir bozukluk olmaksızın, aşırı büyüme, makrosefali, kendine özgü yüz görünümü ve çeşitli derecelerde öğrenme güçlüğü ile karakterize genetik bir durumdur. Olguların çoğu sporadik olup, otozomal dominant kalıtım modeline uyan aileler bildirilmiştir. Sendromdan esas sorumlu olan gen nükleer reseptör bağlayıcı SET domain1 (NSD1) proteinini kodlar. Nadir görülen bu sendrom ilk olarak 1964 yılında, ılımlı mental retardasyonu bulunan beş vakada Sotos ve arkadaşları tarafından tanımlanmıştır. Yüksek alın saç çizgisi, makrosefali, frontal bossing, uzun ve ince yüz görünümü, fronto-temporal bölgede saç seyrekliği, aşağı çekik palpebral fissürler ve belirgin mandibula karakteristik yüz görünümünü oluşturur ve ileri kemik yaşı ve değişik derecelerde mental gerilik diğer tanı kriterleridir. Bu olgu sunumununda yaygın diş çürüğü ve spesifik oral bulguları bulunan 6 yaşındaki sotos sendromlu vakanın dental açıdan yönetimi vurgulanmıştır.

Anahtar Kelimeler:

Sotos Sendromu, Hızlı Büyüme, Mental Retardasyon

Sotos Syndrome: A Case Report

Sotos syndrome is a genetic condition characterized by excessive growth, macrocephaly, specific facial appearance, and varying degrees of learning disability without an endocrine disorder in childhood. Most of the cases were sporadic and the families who matched the autosomal dominant inheritance pattern were reported. The gene responsible for the syndrome encodes the nuclear receptor binding SET domain1 (NSD1) protocol. This rare genetic syndrome was first described by Sotos et al. In 1964 in five cases with excessive height, acromegalic appearance and moderate mental retardation. The high forehead hairline, macrocephaly, frontal bossing, long and thin facial appearance, hair sparse in the fronto- temporal region, downward slanting palpebral fissures and prominent mandible are the characteristic facial appearance, and the advanced bone age and mental retardation in different levels are the other diagnostic criteria.The aim of this case report is to emphasize the dental management of 6 year old sotos syndrome with common dental caries and specific oral findings.

Keywords:

Sotos Syndrome, Rapid Growth, Mental Retardation,

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