3MC sendromu: Bir olgu sunumu

3MC sendromu tipik yüz bulguları, yarık dudak/damak, boy kısalığı, gelişme geriliği, umblikal defekt, genitoüriner ve sakral anomaliler ile seyreden, nadir görülen, otozomal resesif geçiş gösteren bir sendromdur. 3MC sendromlu hastalarda, doğal immun sistemin lektin kompleman yolağında görev alan proteinleri kodlayan MASP1, COLEC11 ve COLEC10 genlerinde mutasyonlar saptanmıştır. Bu yazıda, MASP1 geni mutasyon analizi ile tanısı doğrulanan 3MC sendromlu 2 yaşındaki bir erkek hasta sunulmuştur.

Anahtar Kelimeler:

3MC sendromu, MASP1, COLEC11, COLEC10, blefaroptozis, epikantus inversus

3MC syndrome: A case report

3MC syndrome is a rare autosomal recessive disorder associated with distinctive facial features, cleft lip/palate, short stature, developmental delay, periumbilical defects, genitourinary and sacral anomalies. Mutations in the genes which encode proteins involved in the lectin complement pathway of innate immune system; MASP1, COLEC11 and COLEC10 have been identified in patients with 3MC syndrome. We report a 2-year-old male patient with 3MC syndrome; in whom diagnosis was confirmed by mutation analysis of the MASP1 gene.

Keywords:

3MC syndrome, MASP1, COLEC11, COLEC10, blepharophytosis, epicanthus inversus,

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