S

 

SCT sendromu (spondylocarpotarsal synostosis)

Kalıtsal - AR

Gelişme geriliği

Boyun kısa

Gövde kısa

Yüz yuvarlak-geniş

Alın bombesi yüksek

Hipertelorizm

Katarakt

Retinal pigmentasyon bozukluğu

Retina damarlanması yetersiz

Kısa burun

Köşeli burun ucu

İşitme sorunları

Yarık damak

Mine hipoplazisi

Restriktif akciğer hastalığı

İnguinal herni

Renal kistler

Eklemler gevşek

Vertebra anomalileri

Skolyoz

Lordoz

Femurlarda epifiz displazisi

Sakrum anomalisi

Parmak anomalileri

 

  • Coelho K-EFA, Ramos ES, Felix TM, et al. Three new cases of spondylocarpotarsal synostosis syndrome: clinical and radiographic studies. American Journal of Medical Genetics, 77: 12-15, 1998

  • Honeywell C, Langer L, Allanson J. Spondylocarpotarsal synostosis with epiphyseal dysplasia. American Journal of Medical Genetics, 109:318–322, 2002

  • Krakow D, Robertson SP, King LM, et al. Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis. Nature Genetics, 36: 405-410, 2004

  • Isidor B, Cormier-Daire V, Le Merrer M, et al. Autosomal dominant spondylocarpotarsal synostosis syndrome: phenotypic homogeneity and genetic heterogeneity. American Journal of Medical Genetics A, 146A(12): 1593-1597, 2008

  • Mitter D, Krakow D, Farrington-Rock C, Meinecke P. Expanded clinical spectrum of spondylocarpotarsal synostosis syndrome and possible manifestation in a heterozygous father. American Journal of Medical Genetics A, 146A:779–783, 2008

  • Brunetti-Pierri N, Esposito B, De Brasi D, et al. Spondylocarpotarsal synostosis: long-term follow-up of a case due to FLNB mutations. American Journal of Medical Genetics, 146A: 1230-1233, 2008