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


SEVEN M., YOSUNKAYA E., YILMAZ S. N. , KARACA E., GÜVEN G., YUKSEL A.

GENETIC COUNSELING, cilt.22, ss.25-34, 2011 (SCI İndekslerine Giren Dergi) identifier

  • Cilt numarası: 22 Konu: 1
  • Basım Tarihi: 2011
  • Dergi Adı: GENETIC COUNSELING
  • Sayfa Sayısı: ss.25-34

Özet

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.