Weill-Marshesani sendromu

Kalıtsal - AR/AD

Gelişme geriliği

Kaslı görünüm

Brakisefali

Orbitalar sığ

Glokom

Lens ektopisi

Göz ön kamerası sığ

Katarakt

Görme sorunları

Burun yayvan

Maksilla hipoplazisi (mikrognati)

Dar damak

Dişlerde malformasyonlar

Kalp kapaklarında darlık/yetmezlik

Ventriküler septum defekti

Uzun kemiklerin korteksleri ince

Kostalar kalın

Eklem hareketleri kısıtlı

Skolyoz

Parmak anomalileri

Deri kalın

 

• Wirtz MK, Samples JR, Kramer PL, et al. Weill-Marchesani syndrome: possible linkage of the autosomal dominant form to 15q21.1. American Journal of Medical Genetics, 65: 68-75, 1996

• Faivre L, Megarbane A, Alswaid A, et al. Homozygosity mapping of a Weill-Marchesani syndrome locus to chromosome 19p13.3-p13.2. Human Genetics, 110: 366-370, 2002

• Faivre L, Gorlin RJ, Wirtz MK, et al. In frame fibrillin-1 gene deletion in autosomal dominant Weill-Marchesani syndrome. Journal of Medical Genetics, 40: 34-36, 2003

• Kutz WE, Wang LW, Dagoneau N, et al. Functional analysis of an ADAMTS10 signal peptide mutation in Weill-Marchesani syndrome demonstrates a long-range effect on secretion of the full-length enzyme. Human Mutation, 29: 1425-1434, 2008

• Morales J, Al-Sharif L, Khalil DS, et al. Homozygous mutations in ADAMTS10 and ADAMTS17 cause lenticular myopia, ectopia lentis, glaucoma, spherophakia, and short stature. American Journal of Human Genetics, J. Hum. Genet. 85: 558-568, 2009

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