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Abstract #45952 Published in IGR 13-2
A new syndrome presenting with dysmorphic facies, oculocutaneous albinism, glaucoma, cryptorchidism and mental retardation
Seven M; Yosunkaya E; Yilmaz SB; Karaca E; Guven G; Yuksel AGenetic Counselling 2011; 22: 25-34
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.
M. Seven. Istanbul University, Cerrahpasa Medical School, Department of Medical Genetics, Fatih-Istanbul, Turkey. Email: mimseven@istanbul.edu.tr
Classification:
9.4.15 Glaucoma in relation to systemic disease (Part of: 9 Clinical forms of glaucomas > 9.4 Glaucomas associated with other ocular and systemic disorders)
