123...
3MC sendromu (oculopalatoskeletal sendrom)
Kalıtsal - AR
3 fenotip
Gelişme geriliği
Kraniyosinostozis
Frontal fontanel büyük
Mikrosefali
Hipertelorizm
Göz kapakları yapışıklığı
Göz ön kamera anomalisi
Glokom
Ptosis
İşitme sorunları
Maksilla belirgin-kaba
Yarık dudak (Malpuech fenotipinde bilateral olabilir)
Yarık damak (Malpuech fenotipinde bilateral olabilir)
Kalpte septum defektleri
Süpernümerer meme uçları
Karın duvarı anomalisi (herni)
Ürogenital anomaliler (hidronefroz)
Spina bifida
Sakrumda kistik oluşum
Psikomotor gerilik
Yaygın fenotip: Malpuech sendromu
Ender fenotipler (ayrıntı verilmemiştir): Michels sendromu, Carnavale sendromu, Mingarelli sendromu, OSA sendromu
-
Cunniff C, Jones KL. Craniosynostosis and lid anomalies: report of a girl with Michels syndrome. American Journal of Medical Genetics, 37(1):28-30, 1990
-
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
-
Titomanlio L, Bennaceur S, Bremond-Gignac D, et al. Michels syndrome, Carnevale syndrome, OSA syndrome, and Malpuech syndrome: variable expression of a single disorder (3MC syndrome)? American Journal of Medical Genetics A, 137A(3):332-335, 2005
-
Sırmacı A, Walsh T, Akay H, et al. MASP1 mutations in patients with facial, umbilical, coccygeal, and auditory findings of Carnevale, Malpuech, OSA, and Michels syndromes. American Journal of Medical Genetics, 87(5):679-686, 2010
-
Rooryck C, Diaz-Font A, Osborn DPet al. Mutations in lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndrome. Nature Genetics, 43(3):197-203, 2011
-
Urquhart J, Roberts R, de Silva D, et al. Exploring the genetic basis of the 3MC syndrome: findings in 12 further families. Am. J. Med. Genet. 170A: 1216-1224, 2016