3MC sendromu: Bir olgu sunumu

Yıl 2019, , 107 - 109, 01.08.2019

Seda Çakmaklı , Yaşar Kandur

https://doi.org/10.25000/acem.505975

Cited By: 3

Öz

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

Öz

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.

Anahtar Kelimeler

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

Kaynakça

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