Infantile spasms in two children with Williams syndrome

We describe two children with Williams syndrome and infantile spasms. The diagnosis of Williams syndrome was confirmed by documentation of a deletion of the elastin gene/Williams syndrome region at 7q11.23. The diagnosis of infantile spasms was confirmed through the presence of interictal hypsarrhyt...

Ausführliche Beschreibung

Gespeichert in:

Bibliographische Detailangaben
Veröffentlicht in:	American journal of medical genetics 1997-07, Vol.71 (1), p.54-56
Hauptverfasser:	Tsao, Chang Y., Westman, Judith A.
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult Biological and medical sciences Child, Preschool Chromosome Aberrations Chromosomes, Human, Pair 7 Complex syndromes Elastin - genetics elastin gene Female Gene Deletion Humans hypsarrhythmia Infant infantile spasms Male Medical genetics Medical sciences Spasms, Infantile - complications Spasms, Infantile - genetics Williams syndrome Williams Syndrome - complications Williams Syndrome - genetics
Online-Zugang:	Volltext
Tags:	Tag hinzufügen Keine Tags, Fügen Sie den ersten Tag hinzu!

Beschreibung
Zusammenfassung:	We describe two children with Williams syndrome and infantile spasms. The diagnosis of Williams syndrome was confirmed by documentation of a deletion of the elastin gene/Williams syndrome region at 7q11.23. The diagnosis of infantile spasms was confirmed through the presence of interictal hypsarrhythmia. This represents one of the first reports of infantile spasms in the Williams syndrome. Am. J. Med. Genet. 71:54–56, 1997. © 1997 Wiley‐Liss, Inc.
ISSN:	0148-7299 1096-8628
DOI:	10.1002/(SICI)1096-8628(19970711)71:1<54::AID-AJMG10>3.0.CO;2-U