Ocular findings in a patient with oculofaciocardiodental (OFCD) syndrome and a novel BCOR pathogenic variant

Keyphrases

• Pathogenic Variants 100%
• Ocular Findings 100%
• Oculofaciocardiodental Syndrome 100%
• Eye Examination 66%
• Whole Exome Sequencing 66%
• Systemic Findings 66%
• Possible Mechanisms 33%
• Retina 33%
• Retrospective Chart Review 33%
• Medical Issues 33%
• Ocular Manifestations 33%
• Hypertrophy 33%
• Opacity 33%
• Atrial Septal Defect 33%
• Tethered Cord 33%
• Syndactyly 33%
• Patent Ductus Arteriosus 33%
• Visual Development 33%
• Laryngeal Cleft 33%
• Congenital Cataract 33%
• Retinal pigments 33%
• Blepharoptosis 33%
• Bilateral Congenital Cataracts 33%
• Posterior Lenticonus 33%
• BCOR Protein 33%
• Congenital Clubfoot 33%

Medicine and Dentistry

• Congenital Cataract 100%
• Exome Sequencing 100%
• Diagnosis 50%
• Infancy 50%
• Visual Pigment 50%
• Atrial Septal Defect 50%
• Clubfoot 50%
• Syndactyly 50%
• Patent Ductus Arteriosus 50%
• Visual Development 50%
• Laryngeal Cleft 50%
• Ptosis (Eyelid) 50%
• Lenticonus 50%