L

 

Loeys-Dietz sendromu

Kalıtsal -AD

Kafatası eklemlerinde erken kaynaşma

Hipertelorizm

Baş-boyun damarları belirgin

Yarık dudak

Yarık damak

Uvula bifida

Mikrognati

Retrognati

Kalp kapakları patolojileri

Damar patolojileri (aorta dilatasyonu/diseksiyonu, çeşitli arterlerde anevrizmalar)

Atrofik deri

Deri kırılgan

İskelet sistemi anomalileri (sternum anomalileri, skolyoz, el parmak anomalileri, araknodaktili, boyun vertebraları anomalileri)

 

  • Loeys BL, Chen J, Neptune ER, et al. A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2. Nature Genetics, 37:275–281, 2005

  • Erkula G, Sponseller PD, Paulsen LC, et al. Musculoskeletal findings of Loeys-Dietz syndrome. Journal of Bone & Joint Surgery - American Volume, 92:1876–1883, 2010

  • van de Laar IM, Oldenburg RA, Pals G, et al. Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritis. Nature Genetics, 43:121–126, 2011

  • MacCarrick G, Black JH III, Bowdin S, etal. Loeys-Dietz syndrome: a primer for diagnosis and management. Genetics in Medicine, 16: 576-587, 2014