SATB2-associated syndrome: a case report
Introduction: SATB2-associated syndrome is an extremely rare genetic disorder. It is characterized by delayed neurocognitive development, craniofacial anomalies and dental defects. Observation: This case report highlights the craniofacial and dental phenotype linked to a mutation resulting in SATB2-...
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| Format: | Book |
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EDP Sciences,
2024-01-01T00:00:00Z.
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| 001 | doaj_aea2c9a65c4f4c13a4b22d0a587023f0 | ||
| 042 | |a dc | ||
| 100 | 1 | 0 | |a Issad Mehdi |e author |
| 700 | 1 | 0 | |a Ahossi Victorin |e author |
| 700 | 1 | 0 | |a Melli Emma |e author |
| 700 | 1 | 0 | |a Hoarau David |e author |
| 245 | 0 | 0 | |a SATB2-associated syndrome: a case report |
| 260 | |b EDP Sciences, |c 2024-01-01T00:00:00Z. | ||
| 500 | |a 2608-1326 | ||
| 500 | |a 10.1051/mbcb/2024003 | ||
| 520 | |a Introduction: SATB2-associated syndrome is an extremely rare genetic disorder. It is characterized by delayed neurocognitive development, craniofacial anomalies and dental defects. Observation: This case report highlights the craniofacial and dental phenotype linked to a mutation resulting in SATB2-associated syndrome affecting a 13-year-old boy. Conclusion: The diagnosis of this syndrome is very difficult. The management using a multidisciplinary strategy includes among others, oral hygiene maintenance, orthodontic treatment and intensive speech therapy. | ||
| 546 | |a EN | ||
| 690 | |a satb2-associated syndrome (sas) | ||
| 690 | |a glass syndrome | ||
| 690 | |a facial dysmorphism | ||
| 690 | |a dental anomalies | ||
| 690 | |a Dentistry | ||
| 690 | |a RK1-715 | ||
| 690 | |a Surgery | ||
| 690 | |a RD1-811 | ||
| 655 | 7 | |a article |2 local | |
| 786 | 0 | |n Journal of Oral Medicine and Oral Surgery, Vol 30, Iss 1, p 1 (2024) | |
| 787 | 0 | |n https://www.jomos.org/articles/mbcb/full_html/2024/01/mbcb230193/mbcb230193.html | |
| 787 | 0 | |n https://doaj.org/toc/2608-1326 | |
| 856 | 4 | 1 | |u https://doaj.org/article/aea2c9a65c4f4c13a4b22d0a587023f0 |z Connect to this object online. |