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)
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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
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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
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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
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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
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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