Malpuech sendromu

Kalıtsal -AR

3MC sendromu fenotipi

Gelişme geriliği

Hipertelorizm

Ptozis

Yarık dudak (bilateral olabilir)

Yarık damak (bilateral olabilir)

Polidaktili

Konjenital kalp defektleri

Ürogenital anomaliler

Psikomotor gerilik

Sakrumda kuyruksu çıkıntı ve kistik oluşum

Bkz 3MC sendromu

 

  • Crisponi G, Marras AR, Corrias A. Two sibs with Malpuech syndrome. American Journal of Medical Genetics, 86(3):294-299, 1999

  • Kerstjens-Frederikse WS, Brunner HG, van Dael CM, van Essen AJ. Malpuech syndrome: three patients and a review. American Journal of Medical Genetics A, 134(4):450-453, 2005

  • Priolo M, Ciccone R, Bova I, et al. Malpuech syndrome: broadening the clinical spectrum and molecular analysis by array-CGH. European Journal of Medical Genetics, 50(2):139-143, 2007

  • Rooryck C, Diaz-Font A, Osborn DPS, et al. Mutations in lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndrome. Nature Genetics, 43: 197-203, 2011