title: Vocal cord abnormalities in Williams syndrome: a further manifestation of elastin deficiency.
abstract: Williams syndrome (WS) is due to a deletion in the WS critical region at 7q11.23 which includes the elastin gene (ELN). One of the most characteristic features of this disorder is a harsh, brassy, or hoarse voice but the etiology of the vocal characteristics are unknown. We report two patients with WS who had bilateral vocal cord abnormalities, bringing to four the number of children with WS in whom such defects have been documented. We suggest that vocal cord abnormalities may be a far more common feature of WS than has been previously suspected, and that mild vocal cord dysfunction caused by abnormal vocal cord elastin may be the cause of the hoarse voice in this condition.
authors.affiliation: Department of Pediatrics, University of California, San Diego, School of Medicine, La Jolla, California 92103-8446, USA. klyons@ucsd.edu
authors.forename: Keith K
authors.initials: KK
authors.lastname: Vaux
authors.forename: Henry
authors.initials: H
authors.lastname: Wojtczak
authors.forename: Kurt
authors.initials: K
authors.lastname: Benirschke
authors.forename: Kenneth Lyons
authors.initials: KL
authors.lastname: Jones
mesh_terms: D000328:Adult; D004549:Elastin / Q000172:deficiency / Q000235:genetics*; D005260:Female; D017353:Gene Deletion; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D007231:Infant, Newborn; D010641:Phenotype; D014826:Vocal Cord Paralysis / Q000235:genetics* / Q000378:metabolism; D014827:Vocal Cords / Q000002:abnormalities* / Q000473:pathology; D018980:Williams Syndrome / Q000235:genetics* / Q000378:metabolism
chemical_list: D004549:Elastin