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Greig sefalopolisindaktili sendromu

Cephalopolysyndactyly

Kalıtsal -AD

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)

 

  • Kroisel PM, Petek E, Wagner K. Phenotype of five patients with Greig syndrome and microdeletion of 7p13. American Journal of Medical Genetics, 102(3):243-249, 2001

  • Debeer P, Peeters H, Driess S, et al. Variable phenotype in Greig cephalopolysyndactyly syndrome: Clinical and radiological findings in 4 independent families and 3 spontan cases with identified GLI3 mutations. American Journal of Medical Genetics A, 120A:49–58, 2003

  • 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

  • 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

  • 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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