R

 

Roberts sendromu (Roberts psödotalidomid sendromu; SC Phocomelia sendromu)

Kalıtsal - AR

Prenatal/postnatal gelişme geriliği

Ensefalosel

Boyun kısa

Saçlar seyrek ve gümüş rengi

Burun ve kulak kıkırdağı hipoplazisi

Göz kapaklarında malformasyon

Hipertelorizm

Mikroftalmi

Ekzoftalmi

Bulanık kornea/mavi sklera

Kulak anomalileri

Kulaklarda hemangiomlar

Yüz derisinde hemangioma

Yanaklar küçük (hipoplazi)

Dudak yarıkları (bilateral)

Damak yarıkları (bilateral)

Mikrognati

Prognatizm (üstçene)

Kalp septum defektleri

Polikistik böbrek

Atnalı böbrek

Café-au-lait

İnmemiş testis

Penis ve klitoris İriliği

Genellikle üst ekstremitelerde kısalık (phocomelia)

Üst ekstremitelerde eksiklik

Başparmak agenezi/hipoplazisi

Öteki parmaklarda kısalık

Sindaktili

Diz ve dirsek deformasyonları

Vertebra anomalileri

Pelvis anomalileri

Brakisefali

Psikomotor gerilik

 

  • Van Den Berg DJ, Francke U. Roberts syndrome: a review of 100 cases and a new rating system for severity. American Journal of Medical Genetics, 47:1104–1123, 1993

  • Karabulut AB, Aydın H, Erer M, et al. Roberts syndrome from the plastic surgeon's viewpoint. Plastic & Reconstrictive Surgery, 108:1443–1445, 2001

  • Schüle B, Oviedo A, Johnston K, et al. Inactivating mutations in ESCO2 cause SC phocomelia and Roberts syndrome: no phenotype-genotype correlation. American Journal of Human Genetics, 77:1117–1128, 2005

  • Vega H, Waisfisz Q, Gordillo M, et al. Roberts syndrome is caused by mutations in ESCO2, a human homolog of yeast ECO1 that is essential for the establishment of sister chromatid cohesion. Nature Genetics, 37(5):468-470, 2005

  • Gordillo M, Vega H, Trainer AH, et al. The molecular mechanism underlying Roberts syndrome involves loss of ESCO2 acetyltransferase. Human Molecular Genetics, 17: 2172-2180, 2008

  • Goh, E S-Y, Li C, Horsburgh S, et al. The Roberts syndrome/SC phocomelia spectrum--a case report of an adult with review of the literature. . Americam Journal of Medical Genetics A, 152A: 472-478, 2010

  • Bermejo-Sanchez E, Cuevas L, Amar E, et al. Phocomelia: a worldwide descriptive epidemiologic study in a large series of cases from the International Clearinghouse for Birth Defects Surveillance and Research, and overview of the literature. American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 157C: 305-320, 2011