M

 

Meckel sendromları kümesi

Kalıtsal: tüm fenotipler - AR

15 fenotip

Tüm fenotiplerde oral bulgu görülemez

Oral bulgu görülenler:

Meckel sendromu 1 – bkz Meckel sendromu 1 (aşağıda)

Meckel sendromu 5 – yarık dudak, yarık damak

Meckel sendromu 2, 3, 4, 6, 10 – yarık damak

Meckel sendromu 8 – yarık dudak

2 fenotip Joubert sendromu ile çakışmaktadır

 

  • Calmelet P, Feidt X, Viville B, et al. Meckel syndrome. Update on a recurrent case. Journal De Gynecologie, Obstetrique Et Biologie De La Reproduction (Paris), 26(4):435-441, 1997

  • Salonen R, Paavola P. Meckel syndrome. Journal of Medical Genetics, 35(6):497-501, 1998

  • Opitz JM, Schultka R, Gobbel L. Meckel on developmental pathology. American Journal of Medical Genetics, 140A: 115-128, 2006

  • Tallila J, Salonen R, Kohlschmidt N, et al. Mutation spectrum of Meckel syndrome genes: one group of syndromes or several distinct groups? Human Mutation, 30(8):E813-830, 2009

  • Logan CV, Abdel-Hamed Z, Johnson CA. Molecular genetics and pathogenic mechanisms for the severe ciliopathies: insights into neurodevelopment and pathogenesis of neural tube defects. Molecular Neurobiology, 43: 12-26, 2011

  • Barisic I, Boban L, Loane M, et al. Meckel-Gruber Syndrome: a population-based study on prevalence, prenatal diagnosis, clinical features, and survival in Europe. European Journal of Human Genetics, 23(6):746-752, 2015

  • Bachmann-Gagescu R, Dempsey JC, Phelps IG, et al. Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. Journal of Medical Genetics, 52: 514-522, 2015

 

Meckel sendromu 1

Kalıtsal - AR

Boyun kısa/kalın

Mikrosefali

Holoproensefali

Oksipital ensefalosel

Alın bombesi yüksek

Mikroftalmi

Hipertelorizm/hipotelorizm

İris koloboması

Retinal displazi

Makrostomi

Mikrognati

Yarık dudak

Yarık damak

Dilde lobülasyon

Natal dişler

Epiglot yarığı

Kalp-damar anomalileri

Pulmoner hipoplazi

Safra yolları displazileri

Aspleni/splenomegali/aksesuar dalak

A.umblicalis bir tane

İmperfore anüs

Renal agenezis

Polikistik böbrek

Üriner kanallarda malformasyonlar

Adrenal bez hipoplazisi

Dış genital organlarda hipoplazi/displazi

Uzun kemiklerde deformasyonlar

Parmak anomalileri

Beyinde oluşum kusurları (hipoplazi/aplazi)

Beyinde Arnold-Chiari malformasyonları

Beyinde Dandy-Walker malformasyonu

  • Calmelet P, Feidt X, Viville B, et al. Meckel syndrome. Update on a recurrent case. Journal De Gynecologie, Obstetrique Et Biologie De La Reproduction (Paris), 26(4):435-441, 1997

  • Salonen R, Paavola P. Meckel syndrome. Journal of Medical Genetics, 35(6):497-501, 1998

  • Opitz JM, Schultka R, Gobbel L. Meckel on developmental pathology. American Journal of Medical Genetics A, 140A: 115-128, 2006

  • Tallila J, Salonen R, Kohlschmidt N, et al. Mutation spectrum of Meckel syndrome genes: one group of syndromes or several distinct groups? Human Mutation, 30(8):E813-830, 2009

  • Logan CV, Abdel-Hamed Z, Johnson CA. Molecular genetics and pathogenic mechanisms for the severe ciliopathies: insights into neurodevelopment and pathogenesis of neural tube defects. Molecular Neurobiology, 43: 12-26, 2011

  • Barisic I, Boban L, Loane M, et al. Meckel-Gruber Syndrome: a population-based study on prevalence, prenatal diagnosis, clinical features, and survival in Europe. European Journal of Human Genetics, 23(6):746-752, 2015