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Craniofacial and dental characteristics of three Japanese individuals with genetically diagnosed SATB2-associated syndrome |
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| Authors: | Hiroshi Kurosaka Sayuri Yamamoto Kyoko Hirasawa Tomoe Yanagishita Kaoru Fujioka Hideaki Yagasaki Miho Nagata Yasuki Ishihara Ayumi Yonei Yoshihiro Asano Namiki Nagata Takayuki Tsujimoto Toshihiro Inubushi Toshiyuki Yamamoto Norio Sakai Takashi Yamashiro |
| Affiliation: | 1. Department of Orthodontics and Dentofacial Orthopedics, Osaka University Graduate School of Dentistry, Suita, Japan;2. Department of Pediatrics, Tokyo Women's Medical University, Tokyo, Japan;3. Institute of Medical Genetics, Tokyo Women's Medical University, Tokyo, Japan;4. Department of Pediatrics, Faculty of Medicine, University of Yamanashi, Yamanashi, Japan;5. Department of Cardiovascular Medicine, Osaka University Graduate School of Medicine, Osaka, Japan;6. Department of Genetic Counseling Osaka University Hospital, Osaka, Japan;7. Department of Genetic Counseling Osaka University Hospital, Osaka, Japan Department of Pediatrics, Osaka University Graduate School of Medicine, Suita, Japan Department of Health Science, Child Healthcare and Genetic Science, Osaka University Graduate School of Medicine, Suita, Japan |
| Abstract: | Craniofacial defects are one of the most frequent phenotypes in syndromic diseases. More than 30% of syndromic diseases are associated with craniofacial defects, which are important for the precise diagnosis of systemic diseases. Special AT-rich sequence-binding protein 2 (SATB2)-associated syndrome (SAS) is a rare syndromic disease associated with a wide variety of phenotypes, including intellectual disability and craniofacial defects. Among them, dental anomalies are the most frequently observed phenotype and thus becomes an important diagnostic criterion for SAS. In this report, we demonstrate three Japanese cases of genetically diagnosed SAS with detailed craniofacial phenotypes. The cases showed multiple dental problems, which have been previously reported to be linked to SAS, including abnormal crown morphologies and pulp stones. One case showed a characteristic enamel pearl at the root furcation. These phenotypes add new insights for differentiating SAS from other disorders. |
| Keywords: | craniofacial defect SATB2-associated syndrome tooth anomaly |