A

 

Aase-Smith sendromlar kümesi

 

Tip 1

Kalıtsal - AD

Eklem kontraktürleri

Yarık damak

Trismus

Dandy-Walker malformasyonları

Hidrosefalus

Kalpte septum defektleri

 

Tip 2 (Diamond-Blackfan anemisi/sendromu)

 

  • Becker K, Splitt M. A family with distal arthrogryposis and cleft palate: possible overlap between Gordon syndrome and Aase-Smith syndrome. Clinical Dysmorphology, 10: 41-45, 2001

  • Soker M, Ayyıldız O, Işıkdoğan A. Aase-Smith syndrome type II. Saudi Medical Journal, 25(12):2004-2006, 2004

  • Balcı S. Limb anomalies and anemia: Aase-Smith syndrome. Fetal & Pediatric Pathology, 27(6):292-293, 2008

  • Gazda HT, Sheen MR, Vlachos A, et al. Ribosomal protein L5 and L11 mutations are associated with cleft palate and abnormal thumbs in Diamond-Blackfan anemia patients. American Journal of Human Genetics, 86(6):769-780, 2008