A new syndrome presenting with dysmorphic facies, oculocutaneous albinism, glaucoma, cryptorchidism and mental retardation

M Seven; E Yosunkaya; S B Yilmaz; E Karaca; G Guven; A Yuksel

A new syndrome presenting with dysmorphic facies, oculocutaneous albinism, glaucoma, cryptorchidism and mental retardation

Genet Couns. 2011;22(1):25-34.

Authors

M Seven¹, E Yosunkaya, S B Yilmaz, E Karaca, G Guven, A Yuksel

Affiliation

¹ Department of Medical Genetics, Cerrahpasa School of Medicine, Istanbul University, Istanbul, Turkey. [email protected]

PMID: 21614985

Abstract

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.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Albinism, Oculocutaneous / diagnosis
Albinism, Oculocutaneous / genetics*
Ataxia / diagnosis
Ataxia / genetics
Brain / abnormalities
Brain / pathology
Child Development Disorders, Pervasive / diagnosis
Child Development Disorders, Pervasive / genetics
Child, Preschool
Choristoma / diagnosis
Craniofacial Abnormalities / diagnosis
Craniofacial Abnormalities / genetics*
Cryptorchidism / diagnosis
Cryptorchidism / genetics*
Glaucoma / diagnosis
Glaucoma / genetics*
Humans
Intellectual Disability / diagnosis
Intellectual Disability / genetics*
Magnetic Resonance Imaging
Male
Syndrome