Oculo-facio-cardio-dental syndrome in a mother and daughter

E McGovern; M Al-Mudaffer; C McMahon; D Brosnahan; P Fleming; W Reardon

doi:10.1016/j.ijom.2006.05.001

Oculo-facio-cardio-dental syndrome in a mother and daughter

Int J Oral Maxillofac Surg. 2006 Nov;35(11):1060-2. doi: 10.1016/j.ijom.2006.05.001. Epub 2006 Jul 10.

Authors

E McGovern¹, M Al-Mudaffer, C McMahon, D Brosnahan, P Fleming, W Reardon

Affiliation

¹ Dental Department, Our Lady's Hospital for Sick Children, Crumlin, Dublin 12, Ireland. Eleanor.mcgovern@dental.tcd.ie

PMID: 16829040
DOI: 10.1016/j.ijom.2006.05.001

Abstract

Oculo-facio-cardio-dental (OFCD) syndrome is a rare X-linked dominant syndrome characterized by canine teeth with extremely large roots (radiculomegaly), congenital cataract, dysmorphic facial features and congenital heart disease. A case of mother-daughter vertical transmission of OFCD is reported. Dental findings were important in confirming the diagnosis in the mother.

Publication types

Case Reports

MeSH terms

Abnormalities, Multiple / diagnosis*
Adult
Eye Abnormalities / diagnosis
Female
Genetic Diseases, X-Linked / diagnosis*
Heart Defects, Congenital / diagnosis
Humans
Infant, Newborn
Rare Diseases / diagnosis
Syndrome
Tooth Abnormalities / diagnosis*