Rare Dental Abnormalities Seen in Occulo-Facio-Cardio-Dental (OFCD) Syndrome: Three Cases and Review of Nine Patients

Resident’s Name: Anna Haritos Date: October 3, 2008
Article title: Rare Dental Abnormalities Seen in Occulo-Facio-Cardio-Dental (OFCD) Syndrome: Three Cases and Review of Nine Patients
Author(s): Schulze et al.
Journal: American Journal of Medical Genetics
Volume (number): 82: 429-435
Month, Year: 1999
Major topic: characteristics of oculo-facio-cardio-dental syndrome
Minor topic(s): dental characteristics of OFCD syndrome
Type of Article: case report
Main Purpose: to highlight characteristics of this rare syndrome
Overview of method of research: presentation of three new cases of OFCD as well as review of 9 previous patient cases
Findings: OFCD syndrome has been confirmed only in female patients. X-linked dominant inheritance is most likely. All three cases discussed in this article presented with congenital cataracts and microphthalmia or microcornea. Two of the patients suffered from Atrial septal defect. All of the three patients had clefting of the hard and soft palate. Of the 9 reviewed patients and 3 new cases presented, 50% of the 12 patients were affected with clefting. The most important criteria leading to diagnosis of OFCD syndrom are dental abnormalities, specifically extreme elongation of the canine roots. All patients have radiculomegaly of the canines. Radiculomegaly also present in permanent incisors and premolars in some instances as well. Delayed eruption of deciduous and permanent teeth is also a distinctive characteristic of OFCD syndrome and is present in most patients.
Key points/Summary:
O – ocular anomalies: congenital cataract, secondary glaucoma and microphthalmia
F – facial appearance; narrow face, high nasal bridge, broadening of the nasal tip with separated cartilages, cleft palate or submucosous cleft palate
C – cardiac anomalies; atrial septal defect, ventricular septal defect
D – dental; radiculomegaly of canines, oligodontia, delayed dentition, retained deciduous teeth, hypodontia
Syndactyly of toes 2-3 and partial hearing loss also described;
intelligence can range from normal to retarded
Assessment of article: very clear; highlights the central role of dental anomalies in this rare syndrome