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Oculocerebrocutaneous Syndrome (Delleman Syndrome)

  • Ignacio Pascual-Castroviejo

Abstract

Oculocerebrocutaneous syndrome (OCCS) is a rare disease (OMIM # 164180) with only around 35 patients reported so far (Hunter 2008, Tambe et al. 2003) characterized by bilateral anophthalmia and orbital cysts, typical skin lesions consisting in skin appendages, focal dermal hypoplasia/aplasia and punch-like defects, complex brain malformations (mostly of the Dandy-Walker type) associated to mental retardation and seizures, and cleft lip/palate. (1987) suggested the disorder is due to an autosomal dominant lethal somatic mutation that survives by mosaicism.

Keywords

Skin Appendage Proteus Syndrome Goldenhar Syndrome Periventricular Nodular Heterotopia Cerebellar Malformation 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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Copyright information

© Springer-Verlag/Wien 2008

Authors and Affiliations

  • Ignacio Pascual-Castroviejo
    • 1
  1. 1.Paediatric Neurology ServiceUniversity Hospital La Paz, University of MadridMadridSpain

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