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- W3000897575 abstract "Wiedemann–Steiner syndrome (WSS) is a rare autosomal dominant disorder characterized by short stature, intellectual disability, developmental delay, hypertrichosis cubiti, and dysmorphic facial features (thick eyebrows with a lateral flare, long eyelashes, vertically narrow and downslanting palpebral fissures, and wide nasal bridge). Dental findings reported with this syndrome are premature eruption of dentition, malocclusion, hypodontia, cleft palate, and retrognathia. We report a 12-year-old boy with a heterozygous two-base pair deletion in exon 22 of the KMT2A gene, resulting in a frameshift and premature truncation of the protein 17 amino acids downstream to codon 1974. Our patient exhibited multiple impacted supernumerary teeth which have never been reported earlier. This extends the dental phenotypic spectrum of WSS. To the best of our knowledge, this is the first reported case from India." @default.
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- W3000897575 date "2020-01-01" @default.
- W3000897575 modified "2023-09-27" @default.
- W3000897575 title "Dental phenotype of multiple impacted supernumerary teeth in Wiedemann–Steiner syndrome" @default.
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- W3000897575 doi "https://doi.org/10.4103/jclpca.jclpca_12_19" @default.
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