Radiculomegaly of canine teeth and congenital cataracts: Confirmation of a syndrome

Endodontic Management in Oculo-Facio-Cardio-Dental Syndrome: A Case Report

“…Later, Marashi and Gorlin (3) described three cases, two females and one male, with canine radiculomegaly; the two girls had a congenital cataract and one developed glaucoma. Just 2 years later, the same authors reported another case characterized by root dilacerations of four canines, malocclusion and cataract; the mother had contracted rubella during pregnancy (4). Some authors emphasize the importance differential diagnosis between OFCD syndrome and congenital rubella/viral syndrome if associated with delayed dental eruption (5,6).…”

Oculo-facio-cardio-dental (OFCD) syndrome: The first Italian case of BCOR and co-occurring OTC gene deletion

“…Hayward (1980) was the first to report a description of cuspid gigantism, delayed dentition, congenital cataract and cardiac septal defect (ASD, VSD) in a female. Marashi et al (1990Marashi et al ( , 1992 described additional cases with this characteristic combination. Until now are described eighty-three oculo-facio-cardio-dental syndrome female cases associated with mutations in BCOR, among which four partial deletions of the gene.…”

Oculo-facio-cardio-dental (OFCD) syndrome

“…

The association of facial dismorphy, congenital cataracts, microphthalmia, heart disease, and dental radiculomegaly is very rare. This report induced Marashi and Gorlin [5,6] to describe the case of 2 siblings (sister and brother) in whom the girl presented with canine radiculomegaly, root dilaceration, open apices dentes of the incisors and canines, delayed eruption of teeth with persistent primary teeth, extremely deep overbite, and cataracts with secondary glaucoma, whereas the only finding in her brother was an elongation of the canine roots.Wilkie et al [11] were the first to bring up the question of whether this association of features might represent a new syn-

This combination of symptoms clearly represents a distinct syndrome and has recently been described as oculo-facio-cardio-dental (OFCD) syndrome.…”

“…Dieser Bericht war Anlaf3 ffir Marashi u. Gorlin [5,6], ein Geschwisterpaar (Schwester und Bruder) zu beschreiben. Das M~idchen zeigte kanine Radikulomegalie, Wurzeldilazerationen, offene Apices dentium bei den Schneide-und Eckz~hnen, einen verz6gerten Zahndurchbruch mit persistierenden Milch-z~ihnen, einen extrem tiefen Uberbig und Katarakte mit sekun-d~irem Glaukom.…”