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