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3MC sendromu (oculopalatoskeletal sendrom)

Kalıtsal - Gen mutasyonu/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

  • Munye MM, Diaz-Font A, Ocaka L, et al. COLEC10 is mutated in 3MC patients and regulates early craniofacial development. PLoS Genetics, 13: e1006679, 2017