Congenital absence of lacrimal puncta and salivary glands: Report of a Brazilian family and review

Congenital absence of the salivary glands and lacrimal puncta is a rare autosomal‐dominant disorder with variable expressivity. Only a few instances of this condition have been reported. We present the first Brazilian observation of this syndrome and a review of the literature. Am. J. Med. Genet. 94...

Ausführliche Beschreibung

Gespeichert in:

Bibliographische Detailangaben
Veröffentlicht in:	American journal of medical genetics 2000-09, Vol.94 (1), p.32-34
Hauptverfasser:	Ferreira, Ana P.S., Gomez, Ricardo S., Castro, Wagner H., Calixto, Nassim S., Silva, Rogério A.P., Aguiar, Marcos J.B.
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Adult autosomal dominant inheritance Biological and medical sciences Brazil Child Child, Preschool Congenital Abnormalities - genetics congenital agenesis or hypoplasia Female Humans Infant Lacrimal Apparatus - abnormalities lacrimal puncta Male Medical sciences Non tumoral diseases Otorhinolaryngology. Stomatology Pedigree salivary glands Salivary Glands - abnormalities Syndrome Tropical medicine Upper respiratory tract, upper alimentary tract, paranasal sinuses, salivary glands: diseases, semeiology
Online-Zugang:	Volltext
Tags:	Tag hinzufügen Keine Tags, Fügen Sie den ersten Tag hinzu!

Beschreibung
Zusammenfassung:	Congenital absence of the salivary glands and lacrimal puncta is a rare autosomal‐dominant disorder with variable expressivity. Only a few instances of this condition have been reported. We present the first Brazilian observation of this syndrome and a review of the literature. Am. J. Med. Genet. 94:32–34, 2000. © 2000 Wiley‐Liss, Inc.
ISSN:	0148-7299 1096-8628
DOI:	10.1002/1096-8628(20000904)94:1<32::AID-AJMG7>3.0.CO;2-F