title: Oculofaciocardiodental syndrome: a rare case and review of the literature.
abstract: Oculofaciocardiodental syndrome is a rare genetic disorder affecting ocular, facial, dental, and cardiac systems. The clinical diagnosis of oculofaciocardiodental syndrome can be challenging due to a wide variety of symptoms. Oculofaciocardiodental syndrome is found only in females due to its X-linked inheritance pattern and embryonic lethality for males. Radiculomegaly of canines is the most consistent finding in these patients. In this report we present a female patient with characteristic facial features, as well as a comprehensive overview of oculofaciocardiodental syndrome. Diagnosis of oculofaciocardiodental syndrome in this patient was verified by genetic analysis, during which we found a novel mutation in BCOR.
authors: University of Connecticut Health Center, Department of Craniofacial Sciences, Division of Orthodontics, Farmington, CT 06030, USA.
authors: Amirparviz
authors: A
authors: Davoody
authors: I-Ping
authors: IP
authors: Chen
authors: Ravindra
authors: R
authors: Nanda
authors: Flavio
authors: F
authors: Uribe
authors: Ernst J
authors: EJ
authors: Reichenberger
mesh_terms: D000328:Adult; D002386:Cataract / Q000151:congenital* / Q000000981:diagnostic imaging / Q000235:genetics / Q000628:therapy; D002508:Cephalometry; D005260:Female; D006343:Heart Septal Defects / Q000000981:diagnostic imaging / Q000235:genetics* / Q000628:therapy; D006801:Humans; D008850:Microphthalmos / Q000000981:diagnostic imaging / Q000235:genetics* / Q000628:therapy; D009154:Mutation; D011518:Proto-Oncogene Proteins / Q000235:genetics*; D011862:Radiography, Panoramic; D012097:Repressor Proteins / Q000235:genetics*
chemical_list: C411984:BCOR protein, human; D011518:Proto-Oncogene Proteins; D012097:Repressor Proteins