A Severe Case of Robert Syndrome: 4 Limbs Anomalies and Maxillofacial Deformities
Journal Title: International Journal of Medical Research Professionals - Year 2018, Vol 4, Issue 2
Abstract
Robert SC syndrome is a very rare inherited disorder, considered as an autosomal recessive genetic disease characterized by skeletal and facial anomalies, growth retardation, mental retardation, cardiac and renal abnormalities, caused by the mutation of the ESCO2 gene which is located at 8p21.1,and encodes a protein essential in establishing sister chromatid cohesion during S phase. Infants with a severe form of Roberts’s syndrome are often stillborn or die shortly after birth. Mildly affected individuals may live into adulthood. A condition called SC phocomelia syndrome was originally thought to be distinct from Roberts’s syndrome; however, it is now considered to be a mild variant."SC" represents the first letters of the surnames of the two families first diagnosed with this disorder. Thereare approximately 100 cases reported in the literature. It is important to identify the syndrome and provide an accurate genetic counseling with the risk of recurrence between sibling and possible prenatal diagnosis. This is a case report of four years old girl with complex multiple congenital anomalies and dysmorphic features. The Overall clinical and radiographic findings confirm our patient's diagnosis with Robert syndrome.
Authors and Affiliations
Saifaldeen R, Taher Z, Almaghrabi W, Jifri A, Albar R
Keywords
Related Articles
- EP ID EP539979
- DOI 10.21276/ijmrp.2018.4.2.059
- Views 77
- Downloads 0
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