Mild Ocular Findings and Skeletal Anomalies Producing a Marfanoid Appearance, Along with Autoimmune/Inflammatory Findings Due to SNV of Unknown Significance in Genes ABCC6 and OPA1 Inherited from the Mother

Abstract

When faced with patients presenting with dolichostenomelia, ocular features, and Marfanoid appearance, most physicians often suspect the possibility of Marfan syndrome or one of its differential diagnoses. We report a 14-year-old Hispanic female with nanophthalmos with high hyperopia, dolichostenomelic appearance, mild musculoskeletal findings, xerosis, and positivity for some inflammatory/autoimmune markers. Although a detailed evaluation at age eight showed a Marfan systemic score of 0 and growth only between the 10 th and 25 th centile, the diagnosis of Marfan syndrome has been frequently raised until now. Without a specific diagnosis that could explain her syndromic findings, whole genome sequencing (WGS) was requested. This study did not detect a known reported variant but rather heterozygote single nucleotide variants in genes ABCC6 and OPA1 were found. These variants were inherited from her mother who also presents with some medical issues and positive antinuclear antibodies. Although these variants might explain these clinical findings, further confirmation will be necessary. We hope this report may encourage subsequent publications.