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.
Institute of Human Genetics, University of Heidelberg, Heidelberg, Germany.
Melanie Barbara
MB
Boettger
Klaus
K
Kirchhof
Consolato
C
Sergi
Christiane
C
Sakmann
Peter
P
Meyer
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