Erik kurusu göbek sendromu ("prune belly" sendromu; Eagle–Barrett sendromu)

Kalıtsal - AR

Gözlerde pupilla ışık refleksi bozuklukları

Ağız kuruluğu

Konjenital kalp defektleri

Toraks malformasyonu

Abdominal kasların agenezi

Karın derisi altında bağırsak yapılarının görülebilmesi

İmperfore anüs

Üriner sistem anomalileri: hidronefroz, megakist, megaüreter)

Konjenital kalça çıkığı

 

  • Ramasamy R, Haviland M, Woodard JR, Barone JG. Patterns of inheritance in familial prune belly syndrome. Urology, 65: 1227 only, 2005

  • Weber, S., Mir, S., Schlingmann, K. P., Nurnberg, G., Becker, C., Kara, P. E., Ozkayin, N., Konrad, M., Nurnberg, P., Schaefer, F. Gene locus ambiguity in posterior urethral valves/prune-belly syndrome. Pediat. Nephrol. 20: 1036-1042, 2005Weber S, Mir S, Schlingmann KP, et al. Gene locus ambiguity in posterior urethral valves/prune-belly syndrome. Pediatric Nephrology, 20: 1036-1042, 2005

  • Weber S, Thiele H, Mir S, et al. Muscarinic acetylcholine receptor M3 mutation causes urinary bladder disease and a prune-belly-like syndrome. American Journal of Human Genetics,  89: 668-674, 2011

  • Richer J, Milewicz DM, Gow R, et al. R179H mutation in ACTA2 expanding the phenotype to include prune-belly sequence and skin manifestations. American Journal of Medical Genetics A, 158A:664–668, 2012

  • Klar J, Raykova D, Gustafson E, et al. Phenotypic expansion of visceral myopathy associated with ACTG2 tandem base substitution. European Journal of Human Genetics, 23:1679–1683, 2015