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Oculofaciocardiodental syndrome

Cataracts, microphthalmia, radiculomegaly and septal heart defects
Also Known As:
Cataracts, microphthalmia, radiculomegaly and septal heart defects; Marashi Gorlin syndrome; Oculo facio cardio dental syndrome
Networked: 11 relevant articles (0 outcomes, 0 trials/studies)

Bio-Agent Context: Research Results

Experts

1. Biesecker, Leslie G: 2 articles (06/2009 - 04/2004)
2. Dai, Fu-Rong: 1 article (10/2015)
3. Zhang, Yu: 1 article (10/2015)
4. Zhang, Yi: 1 article (10/2015)
5. Tan, Zhi-Ping: 1 article (10/2015)
6. Zhu, Xin: 1 article (10/2015)
7. Wang, Jian: 1 article (10/2015)
8. Doi, Hiroshi: 1 article (03/2012)
9. Matsumoto, Naomichi: 1 article (03/2012)
10. Tsurusaki, Yoshinori: 1 article (03/2012)

Related Diseases

1. Cataract (Cataracts)
2. Microphthalmos
08/01/2010 - "Mutations in BCOR affect humans with oculofaciocardiodental syndrome, which is an X-linked dominant disorder with presumed male lethality and which comprises microphthalmia, congenital cataracts, radiculomegaly, and cardiac and digital abnormalities. "
04/01/2004 - "Oculofaciocardiodental syndrome (OFCD; OMIM 300166) is inherited in an X-linked dominant pattern with presumed male lethality and comprises microphthalmia, congenital cataracts, radiculomegaly, and cardiac and digital abnormalities. "
06/01/2009 - "Oculo-facio-cardio-dental syndrome is a rare X-linked disorder, lethal in males, that comprises microphthalmia, congenital cataracts, congenital heart defect, canine radiculomegaly, and digital anomalies. "
12/01/2011 - "This review provides clinical and molecular information for several of the commonest syndromes associated with A/M: Anophthalmia-Esophageal-Genital syndrome, caused by SOX2 mutations, Anophthalmia and pituitary abnormalities caused by OTX2 mutations, Matthew-Wood syndrome caused by STRA6 mutations, oculofaciocardiodental syndrome and Lenz microphthalmia caused by BCOR mutations, Microphthalmia Linear Skin pigmentation syndrome caused by HCCS mutations, Anophthalmia, pituitary abnormalities, polysyndactyly caused by BMP4 mutations and Waardenburg anophthalmia caused by mutations in SMOC1. "
05/03/1996 - "Oculo-facio-cardio-dental syndrome consists of (1) eye anomalies: congenital cataract and microphthalmia, or secondary glaucoma, (2) facial abnormalities: (long narrow face, high nasal bridge, pointed nose with cartilages separated at the tip, cleft palate, or submucous cleft palate, (3) cardiac anomalies: atrial septal defect (ASD), ventricular septal defect (VSD), or floppy mitral valve; and (4) dental abnormalities: canine radiculomegaly, delayed dentition, oligodontia, persistent primary teeth, or variable root length. "
3. Congenital Heart Defects (Congenital Heart Defect)
4. Atrial Heart Septal Defects (Atrial Septal Defect)
06/01/2009 - "In addition, she had multiple congenital anomalies including atrial septal defect, cataracts, dental and digital anomalies, a constellation that suggested the diagnosis of oculo-facio-cardio-dental syndrome, a condition caused by mutations in BCOR. "
10/01/1998 - "Three unusual dental anomalies are presented which should be of interest to the pediatric radiologist: otodental syndrome - an autosomal dominant syndrome of bizarre, greatly enlarged teeth with bulbous crowns (globodontia) that spares the incisors, in combination with sensorineural hearing loss; oculo-facio-cardio-dental syndrome - an X-linked dominant syndrome that is lethal in males, characterized by congenital cataracts, unusual facies, atrial septal defect (ASD), ventricular septal defect (VSD), and canine teeth that cease to grow only when they cut off their own blood supply by growing through the orbit and lower border of mandible; and lobodontia - a dominant disorder characterized by teeth whose crowns resemble those of a wolf."
05/03/1996 - "Oculo-facio-cardio-dental syndrome consists of (1) eye anomalies: congenital cataract and microphthalmia, or secondary glaucoma, (2) facial abnormalities: (long narrow face, high nasal bridge, pointed nose with cartilages separated at the tip, cleft palate, or submucous cleft palate, (3) cardiac anomalies: atrial septal defect (ASD), ventricular septal defect (VSD), or floppy mitral valve; and (4) dental abnormalities: canine radiculomegaly, delayed dentition, oligodontia, persistent primary teeth, or variable root length. "
5. Ventricular Heart Septal Defects (Ventricular Septal Defect)

Related Drugs and Biologics

1. Carbon Monoxide
2. Anophthalmia with pulmonary hypoplasia
3. syndromic 1 Microphthalmia

Related Therapies and Procedures

1. Crowns (Crown, Dental)