Greig sendromu

Greig sendromu (Greig sefalopolisindaktili sendromu) kalıtsal bir sendromdur. Kafatası ve el parmaklarının birbirlerine yapışık olmasıyla karakterizedir (cephalopolysyndactylia).

Bulgular[1][2][3]
  • Garip yüz yapısı
  • Makrosefali
  • Trigonosefali
  • Alın bombesi yüksek
  • Kemik yaşı ileri
  • Hipertelorizm
  • Kafatası suturalarında geç kapanma
  • Parmak anomalileri (polidaktili, sindaktili)
  • Büyük baş parmak
  • Herniler
  • Epileptiform ataklar (ender)


Kaynakça
  1. Johnston JJ, Olivos-Glander I, Killoran C, et al. Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations. American Journal of Human Genetics, 76:609–622, 2005
  2. Allanson JE, Cunniff C, Hoyme HE, et al. Elements of morphology: standard terminology for the head and face. American Journal of Medical Genetics A, 149A:6–28, 2009
  3. Hurst JA, Jenkins D, Vasudevan PC, et al. Metopic and sagittal synostosis in Greig cephalopolysyndactyly syndrome: five cases with intragenic mutations or complete deletions of GLI3. European Journal of Human Genetics, 19: 757-762, 2011
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