title: An unusual presentation of Smith-Magenis syndrome with iris dysgenesis.
abstract: A boy who presented with iris dysgenesis is described. He was shown to have Smith-Magenis syndrome with a deletion of 17p11.2.
authors.affiliation: Mothercare Unit of Clinical Genetics and Fetal Medicine, Hospital for Children NHS Trust, London, UK.
authors.forename: A J
authors.initials: AJ
authors.lastname: Barnicoat
authors.forename: H U
authors.initials: HU
authors.lastname: Moller
authors.forename: R W
authors.initials: RW
authors.lastname: Palmer
authors.forename: I
authors.initials: I
authors.lastname: Russell-Eggitt
authors.forename: R M
authors.initials: RM
authors.lastname: Winter
mesh_terms: 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
chemical_list: D015342:DNA Probes