D

 

Delleman sendromu (oculocerebrocutaneous sendrom)

Spontan

Mikroftalmi

Orbita kistleri

Kapaklarda koloboma

Nistagmus

Yüz asimetrik

Yarık damak

İnmemiş tetis

Kostalarda displazi

Konjenital kalça çıkığı

Fokal dermal aplazi/hipoplazi alanları

Fokal alopesi

Dandy-Walker malformasyonları

Ventriküllerde dilatasyon

Corpus callosum agenezi

Epileptik atakalar

Zeka geriliği

 

  • Angle B, Hersh JH. Anophthalmia, intracerebral cysts, and cleft lip/palate: expansion of the phenotype in oculocerebrocutaneous syndrome? American Journal of Medical Genetics, 68: 39-42, 1997

  • McCandless SE, Robin NH. Severe oculocerebrocutaneous (Delleman) syndrome: overlap with Goldenhar anomaly. American Journal of Medical Genetics, 78: 282-285, 1998

  • Moog U, Jones MC, Bird LM, Dobyns WB. Oculocerebrocutaneous syndrome: the brain malformation defines a core phenotype. Journal of Medical Genetics, 42: 913-921, 2005