Photo from wikipedia
Roberts syndrome is a very rare autosomal recessive inheritance pattern genetic disorder characterised by symmetric bilateral extremity deformities, midfacial defect, and severe intellectual deficit. These patients also grow slowly prenatal… Click to show full abstract
Roberts syndrome is a very rare autosomal recessive inheritance pattern genetic disorder characterised by symmetric bilateral extremity deformities, midfacial defect, and severe intellectual deficit. These patients also grow slowly prenatal and postnatal. RBS is caused by mutation in the ESCO2 gene. With these clinical and radiological findings, the case was diagnosed as Roberts syndrome. Full gene sequencing of the ESCO2 gene for the patient was done. In this patient, a novel frameshift mutation was identified in the ESCO2 gene.
Journal Title: Journal of the College of Physicians and Surgeons--Pakistan : JCPSP
Year Published: 2018
Link to full text (if available)
Share on Social Media: Sign Up to like & get
recommendations!