title: Neonatal Williams syndrome presenting as an isolated supravalvular pulmonary stenosis.
abstract: An infant with normal facies and none of the extracardiac anomalies usually associated with Williams syndrome presented at birth with an echocardiographic pattern of supravalvular pulmonary stenosis and displastic pulmonary valve. A clinical reappraisal was planned at 3 months of age, but the girl died suddenly at home at 2 months of age. At autopsy, both ventricles were hypertrophic, and the valves showed mild dysplasia. The walls of the great arteries were thick, with a "washed leather" consistency, but there was no gross evidence of discrete stenosis. The histologic mosaic appearance of the media of the great arteries, due to elastosis and extreme disarray of the elastic lamellae, prompted a postmortem diagnosis of supravalvar aortic stenosis and suggested a diagnosis of Williams syndrome, which was subsequently confirmed by fluorescence in situ hybridization. Pediatricians and pathologists should be alerted that Williams syndrome in the newborn may present as an isolated supravalvular pulmonary stenosis, whereas supravalvular aortic stenosis becomes clinically significant only a few months later.
authors.affiliation: Department of Experimental Medicine and Pathology, University La Sapienza, Rome, Italy.
authors.forename: Cira R T
authors.initials: CR
authors.lastname: di Gioia
authors.forename: Costantino
authors.initials: C
authors.lastname: Ciallella
authors.forename: Giulia
authors.initials: G
authors.lastname: d'Amati
authors.forename: Eleonora
authors.initials: E
authors.lastname: Parroni
authors.forename: Anna Maria
authors.initials: AM
authors.lastname: Nardone
authors.forename: Pietro
authors.initials: P
authors.lastname: Gallo
mesh_terms: D021921:Aortic Stenosis, Supravalvular / Q000209:etiology / Q000473:pathology; D002872:Chromosome Deletion; D002897:Chromosomes, Human, Pair 7 / Q000235:genetics; D003937:Diagnosis, Differential; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D007231:Infant, Newborn; D011666:Pulmonary Valve Stenosis / Q000209:etiology* / Q000473:pathology; D018980:Williams Syndrome / Q000150:complications* / Q000235:genetics / Q000473:pathology