Colobomas of the iris and choroid and high signal intensity cerebral foci on T2-weighted magnetic resonance images in Klinefelter's syndrome.
A 5-year-old boy presented with ocular anomalies including microphthalmos, colobomas of the iris, choroid, and optic nerve head, and strabismus. Magnetic resonance imaging of the head showed multiple bilateral asymmetric high signal intensity foci in the subcortical and periventricular white matter. Genetic counseling disclosed a 47,XXY karyotype.
Boettger
Melanie Barbara
MB
Institute of Human Genetics, University of Heidelberg, Heidelberg, Germany.
Kirchhof
Klaus
K
Sergi
Consolato
C
Sakmann
Christiane
C
Meyer
Peter
P
D000015:Abnormalities, Multiple; D001921:Brain / Q000473:pathology*; D002675:Child, Preschool; D002829:Choroid / Q000002:abnormalities*; D003103:Coloboma / Q000175:diagnosis*; D006801:Humans; D007498:Iris / Q000002:abnormalities*; D007713:Klinefelter Syndrome / Q000175:diagnosis*; D008279:Magnetic Resonance Imaging; D008297:Male; D008850:Microphthalmos / Q000175:diagnosis; D009898:Optic Disk / Q000002:abnormalities