S

 

Short-rib thoracic dysplasia” sendromları kümesi

22 fenotipi olan sendromlar kümesi

2 ortak bulgu: kostaların kısalığı ve toraks displazisi

Fenotiplerin bir bölümünde polidaktili bulgusu

Sık görülen oral bulgu: Yarık damak

 

Oral bulgu içeren feotipler (11 fenotip):

Saldino-Noonan sendromu (fenotip 3)

Majewski sendromu (fenotip 6)

Short-rib thoracic dysplasia 7

Mainzer-Saldino sendromu (fenotip 9)

Beemer-Langer sendromu (fenotip 12)

Short-rib thoracic dysplasia 13

Short-rib thoracic dysplasia 14

Short-rib thoracic dysplasia 15

Short-rib thoracic dysplasia 18

Short-rib thoracic dysplasia 20

Ellis-van Creveld sendromu

 

  • Elçioğlu NH, Hall CM. Diagnostic dilemmas in the short rib-polydactyly syndrome group. American Journal of Medical Genetics, 111: 392-400, 2002

  • Kannu P, mcFarlane JH, Savarirayan R, Aftimos S. An unclassifiable short rib-polydactyly syndrome with acromesomelic hypomineralization and campomelia in siblings. American Journal of Medical Genetics, 143A: 2607-2611, 2007

  • Beals RK, Weleber RG. Conorenal dysplasia: a syndrome of cone-shaped epiphysis, renal disease in childhood, retinitis pigmentosa and abnormality of the proximal femur. American Journal of Medical Genetics, 143A: 2444-2447, 2007

  • Dagoneau N, Goulet M, Genevieve D, et al. DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III. American Journal of Human Genetics, 84: 706-711, 2009

  • Huber C, Cormier-Daire V. Ciliary disorder of the skeleton. American Journal of Medical Genetics, 160C: 165-174, 2012

  • Perrault I, Saunier S, Hanein S, et al. Mainzer-Saldino Syndrome is a ciliopathy caused by IFT140 mutations. American Journal of Human Genetics, 90: 864-870, 2012

  • Schmidts M, Vodopiutz J, Christou-Savina S, et al. Mutations in the gene encoding IFT dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophy. American Journal of Human Genetics, 93: 932-944, 2013

  • Taylor SP, Dantas TJ, Duran I, et al. Mutations in DYNC2LI1 disrupt cilia function and cause short rib polydactyly syndrome. Nature Communications, 6: 7092, 2015

  • Caparros-Martin JA, De Luca A, Cartault F, et al. Specific variants in WDR35 cause a distinctive form of Ellis-van Creveld syndrome by disrupting the recruitment of the EvC complex and SMO into the cilium. Human Molecular Genetics, 24: 4126-4137, 2015

  • Niceta M, Margiotti K, Digilio MC, et al. Biallelic mutations in DYNC2LI1 are a rare cause of Ellis-van Creveld syndrome. Clinical Genetics, 93: 632-639, 2018