Oculoectodermal sendrom

Nedeni belirsiz (somatik mutasyon)

Çok ender

Yüz asimetrisi

Çocuklarda çenelerde dev hücreli reparatif granülomlar

Deri eksikliği (aplasia cutis congenita)

Epibulbar dermoidler

Göz anomalileri

Kardiyovasküler anomaliler

Alt ekstremitelerde asimetri
Uzun kemiklerde "nonossifying fibroma"lar

Epilepsi

Entelektüel yetersizlik

 

  • Federici S, Griffiths D, Siberchicot F, et al.  Oculo-ectodermal syndrome: a new tumour predisposition syndrome. Clinical Dysmorphology, 13(2):81-83, 2004

  • Ardinger HH, Horii KA, Begleiter ML. Expanding the phenotype of oculoectodermal syndrome: possible relationship to encephalocraniocutaneous lipomatosis. American Journal of Medical Genetics A, 143A: 2959-2962, 2007

  • Aslan D, Akata RF, Schröder J, et al. Oculoectodermal syndrome: report of a new case with a broad clinical spectrum. American Journal of Medical Genetics A, 164A(11):2947-2951, 2014

  • Mermer S, Kayhan G, Karacelebi E, Percin FE. Oculoectodermal syndrome: a new case with giant cell granulomas and non-ossifying fibromas. Genetic Counseling, 27(1):77-81, 2016

  • Boppudi S, Bogershausen N, Hove HB, et al. Specific mosaic KRAS mutations affecting codon 146 cause oculoectodermal syndrome and encephalocraniocutaneous lipomatosis. Clinical Genetics, 90: 334-342, 2016

  • Chacon-Camacho OF, Lopez-Moreno D, Morales-Sanchez MA, et al. Expansion of the phenotypic spectrum and description of molecular findings in a cohort of patients with oculocutaneous mosaic RASopathies. Molecular Genetics&Genomic Medicine, 7: e625, 2019