Greig sefalopolisindaktili sendromu | cephalopolysyndactyly |

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