Dental phenotype of multiple impacted supernumerary teeth in Wiedemann–Steiner syndrome
| Autor: | Priyanka Verma, Seema Kapoor, Haseena Sait, Sujoy Ghosh, Sunita Gupta |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2020 |
| Předmět: | |
| Zdroj: | Journal of Cleft Lip Palate and Craniofacial Anomalies, Vol 7, Iss 1, Pp 59-63 (2020) |
| Druh dokumentu: | article |
| ISSN: | 2348-2125 2348-3644 |
| DOI: | 10.4103/jclpca.jclpca_12_19 |
| Popis: | 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. |
| Databáze: | Directory of Open Access Journals |
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