S

 

Stromme sendromu

Kalıtsal - AR

Mikrosefali

Mikroftalmi

Gözler derinde

Hipertelorizm

Mikrokornea

Sklerokornea

İris koloboması

Optik sinir hipoplazisi

Peters anomalisi (korneada bulanıklaşma ve  iridolentikülokorneal yapışıklıklar)

Katarakt

Kulaklar aşağıda

Geniş ve yüksek burun sırtı

Mikrognati

Yarık damak

Foramen ovale açık

Kardiyomyopati bulguları

Aksesuvar dalak

Duodenal ve intestinal atrezi

Böbrek anomalileri

Hidrosefalus

Corpus callosum agenezi

Serebellar hipoplazi

 

  • Bellini C, Mazzella M, Arioni C, et al. 'Apple-peel' intestinal atresia, ocular anomalies, and microcephaly syndrome: brain magnetic resonance imaging study. American Journal of Medical Genetics, 110: 176-178, 2002

  • Waters AM, Asfahani R, Carroll P, et al. The kinetochore protein, CENPF, is mutated in human ciliopathy and microcephaly phenotypes. Journal of Medical Genetics, 52: 147-156, 2015

  • Filges I, Bruder E, Brandal K, et al. Stromme syndrome is a ciliary disorder caused by mutations in CENPF. Human Mutation, 37: 359-363, 2016

  • Ozkınay F, Atik, T, Işık, E, et al. A further family of Stromme syndrome carrying CENPF mutation. American Journal of Medical Genetics, 173A: 1668-1672, 2017