Abstract
Singleton Merten syndrome (SMS) is one of the rarest multisystem genetic disorders that had been recognized in only a few cases. Patients who have this syndrome often present with calcification of the aorta and heart valves, dental dysplasia, joint calcification, distinct facial features, and growth and developmental delay. Other physical findings usually associated with SMS may include glaucoma, skeletal abnormalities including tendon rupture, muscle weakness, and arthropathy. In individuals with SMS, autoimmune diseases like psoriasis and systemic lupus erythematosus (SLE) can occur. In this case, we report a pre-term baby girl that developed congenital aortic calcification, renal hypertension, dental anomalies, multiple joint calcifications, atypical facial features, mild mental retardation, and developmental delay. At 17 years, the patient developed SLE based on positive antinuclear antibody (ANA) with clinical and immunological features like fever, malar rash, pericardial effusion, proteinuria, high ANA concentration, high anti-double-stranded DNA, low C4 complement, and presence of anti-Smith antibodies.
Sign-in/Register to access full text options 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
