Oculo-facio-cardio-dental syndrome in a mother and daughter.
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.
McGovern
E
E
Dental Department, Our Lady's Hospital for Sick Children, Crumlin, Dublin 12, Ireland. Eleanor.mcgovern@dental.tcd.ie
Al-Mudaffer
M
M
McMahon
C
C
Brosnahan
D
D
Fleming
P
P
Reardon
W
W
D000015:Abnormalities, Multiple / Q000175:diagnosis*; D000328:Adult; D005124:Eye Abnormalities / Q000175:diagnosis; D005260:Female; D040181:Genetic Diseases, X-Linked / Q000175:diagnosis*; D006330:Heart Defects, Congenital / Q000175:diagnosis; D006801:Humans; D007231:Infant, Newborn; D035583:Rare Diseases / Q000175:diagnosis; D013577:Syndrome; D014071:Tooth Abnormalities / Q000175:diagnosis*