Oculo-facio-cardio-dental (OFCD) syndrome.
The association of facial dysmorphy, congenital cataracts, microphthalmia, heart disease, and dental radiculomegaly is very rare. We describe a girl with atrial septal defect, unilateral congenital cataract, unilateral microphthalmia, radiculomegaly of incisor and canine teeth with open apices and other dental crown anomalies. This combination of symptoms clearly represents a distinct syndrome and has recently been described as oculo-facio-cardio-dental (OFCD) syndrome.
Opitz
C
C
Department of Orofacial Orthopedics and Orthodontics, Humboldt-University, Berlin, Germany.
Horn
D
D
Lehmann
R
R
Dimitrova
T
T
Fasmers-Henke
K
K
D000015:Abnormalities, Multiple / Q000175:diagnosis*; D000293:Adolescent; D002386:Cataract / Q000151:congenital* / Q000175:diagnosis*; D003481:Cuspid / Q000002:abnormalities; D005145:Face / Q000002:abnormalities*; D005260:Female; D006344:Heart Septal Defects, Atrial / Q000175:diagnosis*; D006801:Humans; D007180:Incisor / Q000002:abnormalities; D008279:Magnetic Resonance Imaging; D008850:Microphthalmos / Q000175:diagnosis*; D011862:Radiography, Panoramic; D013577:Syndrome; D014092:Tooth Root / Q000002:abnormalities*