title: Cutaneous features in 17q21.31 deletion syndrome: a differential diagnosis for cardio-facio-cutaneous syndrome.
abstract: Microdeletion of 17q21.31 causes a recurrent recognizable dysmorphic syndrome. A further four patients with 17q21.31 microdeletions are reported here in whom an earlier diagnosis of cardio-facio-cutaneous syndrome was suggested. These patients have significant similarities of facial gestalt to earlier reported 17q21.31 microdeletion patients, but a striking feature that has not been emphasized previously is the large number of naevi and other pigmentary skin abnormalities that may be present. These features, together with a coarse facial appearance, relative macrocephaly and significant learning disabilities, were what had led to the earlier diagnostic suggestion of cardio-facio-cutaneous syndrome in each of these four cases.
authors.affiliation: Genetic Medicine, Manchester Academic Health Science Centre, University of Manchester, Central Manchester University Hospitals NHS Foundation Trust, St Mary's Hospital, Manchester Clinical Genetics, Sheffield Children's NHS Foundation Trust, Sheffield Children's Hospital, Western Bank, Sheffield, UK.
authors.forename: Emma Burkitt
authors.initials: EB
authors.lastname: Wright
authors.forename: Dian
authors.initials: D
authors.lastname: Donnai
authors.forename: Diana
authors.initials: D
authors.lastname: Johnson
authors.forename: Jill
authors.initials: J
authors.lastname: Clayton-Smith
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D002872:Chromosome Deletion; D002886:Chromosomes, Human, Pair 17 / Q000235:genetics; D003937:Diagnosis, Differential; D004476:Ectodermal Dysplasia / Q000175:diagnosis / Q000235:genetics; D019066:Facies; D005183:Failure to Thrive / Q000175:diagnosis / Q000235:genetics; D005260:Female; D006330:Heart Defects, Congenital / Q000175:diagnosis / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D012867:Skin / Q000473:pathology*; D058496:Smith-Magenis Syndrome; D055815:Young Adult