title: Wolf-Hirschhorn syndrome (WHS): a history in pictures.
abstract: The Wolf-Hirschhorn syndrome (WHS) is a well known chromosomal disorder, due to a deletion of distal chromosome 4p. The classical gestalt is striking and poses few diagnostic problems. However, due to the difficulty of detecting very small deletions by standard cytogenetics, diagnosis can be sometimes very difficult, particularly in older patients. In this paper we show the changes, occurring over time, in facial appearance of affected individuals, to improve insight into the evolution of the phenotype, and to increase its diagnostic potential.
authors.affiliation: Stella Maris Scientific Research Institute-Institute of Child Neurology and Psychiatry-University of Pisa, Calambrone, Italy. abattaglia@inpe.unipi.it
authors.forename: A
authors.initials: A
authors.lastname: Battaglia
authors.forename: J C
authors.initials: JC
authors.lastname: Carey
authors.forename: D H
authors.initials: DH
authors.lastname: Viskochil
authors.forename: P
authors.initials: P
authors.lastname: Cederholm
authors.forename: J M
authors.initials: JM
authors.lastname: Opitz
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000375:Aging / Q000473:pathology; D002872:Chromosome Deletion; D002894:Chromosomes, Human, Pair 4; D019066:Facies; D006801:Humans; D007223:Infant; D013577:Syndrome