A NEW SYNDROME PRESENTING WITH DYSMORPHIC FACIES, OCULOCUTANEOUS ALBINISM, GLAUCOMA, CRYPTORCHIDISM AND MENTAL RETARDATION

Seven M., Yosunkaya E., Yılmaz Ş., Karaca E., Guven G., Yuksel A.

GENETIC COUNSELING, vol.22, no.1, pp.25-34, 2011 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 22 Issue: 1
  • Publication Date: 2011
  • Journal Name: GENETIC COUNSELING
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.25-34
  • Istanbul University Affiliated: Yes

Abstract

A new syndrome presenting with dysmorphic facies, oculocutaneous albinism, glaucoma, cryptorchidism and mental retardation: We report a case with a new syndrome that presents with glaucoma, cryptorchidism, oculocutaneous albinism, ataxia, hypotonia, autistic behaviour besides various major and minor craniofacial dysmorphic, skeletal, and neuroimaging findings, and suggest that this case represents a new syndrome not reported previously.