A

 

Andersen-Tawil sendromu (Andersen sendromu)

Kalıtsal - AD

20 fenotip

Mikrosefali

Hipertelorizm

Burun sırtı kabarık, ucu belirgin

Düşük kulaklar

Yüz üçgen biçiminde

Alt dudak ince

Maksilla hipoplazisi

Yarık damak

Mikrognati (altçene ramusu kısa)

Persiste süt dişleri

Erüpsiyon aksamaları

Oligodonti

Apeksi açık uzun köklü dişler

Mine hipoplazisi

Aralıklarla gelen kas güçsüzlüğü (periodik paralizi)

Kardiyak aritmiler

Ayaklar küçük

Kıvrık parmaklar

Sindaktili

Kısa boy

Skolyoz

 

  • Canun S, Pérez N, Beirana LG. Andersen syndrome autosomal dominant in three generations. American Journal of Medical Genetics, 85:147–156, 1999

  • Andelfinger G, Tapper AR, Welch RC, et al. KCNJ2 mutation results in Andersen syndrome with sex-specific cardiac and skeletal muscle phenotypes.  American Journal of Human Genetics, 71:663–668, 2002

  • Davies NP, Imbrici P, Fialho D, et al. Andersen-Tawil syndrome: new potassium channel mutations and possible phenotypic variation. Neurology, 65(7): 1083-1089, 2005

  • Yoon G, Oberoi S, Tristani-Firouzi M, et al. Andersen-Tawil syndrome: prospective cohort analysis and expansion of the phenotype.  American Journal of Medical Genetics A, 140:312–321, 2006

  • Chan H-F, Chen M-L, Su J-J, et al. A novel neuropsychiatric phenotype of KCNJ2 mutation in one Taiwanese family with Andersen–Tawil syndrome. Journal of Human Genetics, 55:286-288, 2010