M

 

Marshall sendromu

Kalıtsal -AD

Gelişme geriliği

Kafatası kalın

Hipertelorizm

Konjenital katarakt

Glokom

Retina dekolmanı

Lens dislokasyonu

İçe şaşılık

Basık yüz

Basık-düz burun

Paranazal sinüslerin agenezi

Kulaklar aşağıda

İşitme sorunları

Filtrum uzun

Mikrognati

Dudaklar kalın

Yarık damak

Robin sequence bulguları

Beyin zarları kalsifikasyonu

Pelvis anomalileri

Uzun kemiklerde malformasyonlar

  • Marshall D. Ectodermal dysplasia: report of kindred with ocular abnormalities and hearing defect. American Journal of Ophthalmology, 45: 143-156, 1958

  • Shanske AL, Bogdanow A, Shprintzen RJ, Marion RW. The Marshall syndrome: report of a new family and review of the literature. American Journal of Medical Genetics, 70: 52-57, 1997

  • Griffith AJ, Sprunger LK, Sirko-Osadsa DA, et al. Marshall syndrome associated with a splicing defect at the COL11A1 locus. American Journal of Human Genetics, 62: 816-823, 1998

  • Annunen S, Korkko J, Czarny M, et al. Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes. American Journal of Human Genetics, 65: 974-983, 1999

  • Majava M, Hoornaert KP, Bartholdi D, et al. A report on 10 new patients with heterozygous mutations in the COL11A1 gene and a review of genotype-phenotype correlations in type XI collagenopathies. American Journal of Medical Genetics, 143A: 258-264, 2007

  • Ala-Kokko L, Shanske AL. Mosaicism in Marshall syndrome. American Journal of Medical Genetics, 149A: 1327-1330, 2009