An unusual presentation of Smith-Magenis syndrome with iris dysgenesis.
A boy who presented with iris dysgenesis is described. He was shown to have Smith-Magenis syndrome with a deletion of 17p11.2.
Barnicoat
A J
AJ
Mothercare Unit of Clinical Genetics and Fetal Medicine, Hospital for Children NHS Trust, London, UK.
Moller
H U
HU
Palmer
R W
RW
Russell-Eggitt
I
I
Winter
R M
RM
D000328:Adult; D002872:Chromosome Deletion; D002874:Chromosome Mapping; D002886:Chromosomes, Human, Pair 17; D015342:DNA Probes; D005124:Eye Abnormalities / Q000235:genetics*; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D007498:Iris / Q000002:abnormalities*; D007621:Karyotyping; D008297:Male; D010641:Phenotype; D013577:Syndrome
D015342:DNA Probes