Polydactyly in a boy with Smith-Magenis syndrome.
Smith-Magenis syndrome is a microdeletion syndrome involving chromosome 17p11.2. The characteristic features include mental retardation, dysmorphic facial features, minor skeletal anomalies including brachydactyly and behavioural abnormalities, such as disturbed sleep pattern, restlessness and self-destructive behaviour. We present a patient with this syndrome and with six digits on each hand. Polydactyly has not yet been described in Smith-Magenis syndrome as far as we know.
MarianneJensen
Lisbeth
L
Pediatric Department, Herning Sygehus, Herning, Denmark Rigshospitalet, Department of Clinical Genetics, Copenhagen, Denmark.
Kirchhoff
Maria
M
D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology*; D002675:Child, Preschool; D002872:Chromosome Deletion; D002886:Chromosomes, Human, Pair 17 / Q000235:genetics; D002658:Developmental Disabilities / Q000473:pathology; D015894:Genome, Human; D006130:Growth Disorders / Q000473:pathology; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008607:Intellectual Disability / Q000473:pathology*; D008297:Male; D009693:Nucleic Acid Hybridization / Q000379:methods; D017689:Polydactyly / Q000473:pathology*; D013577:Syndrome