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Abstract #123521 Published in IGR 25-1
Fibrillin-1 Gene Variant p.Gly1754Ser Associated With Weill-Marchesani Syndrome Type 2: A Case Report
Tamhankar PM; Menon P; Mane SV; Muthu Kumar ACureus 2024; 16: e69448
Weill-Marchesani syndrome (WMS) is a rare connective tissue disorder characterized by severe short stature, small hands and feet, joint stiffness, eye abnormalities such as microspherophakia, ectopia of lenses, severe myopia, glaucoma, and heart defects. This case study describes a nine-year-old female child with WMS syndrome type 2 and heterozygous pathogenic variant p.Gly1754Ser in the fibrillin-1 gene, identified on whole exome sequencing. Two individuals with WMS with the p.Gly1754Ser variant have been previously reported in the medical literature. The present case is the fourteenth case of WMS type 2 with fibrillin-1 gene mutation in the medical literature, to the best of the author's knowledge.
Pediatrics, Dr. D.Y. Patil Medical College, Hospital and Research Centre, Dr. D.Y. Patil Vidyapeeth (Deemed to be University), Pune, IND.
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