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-...
Saved in:
| Main Authors: | , , , |
|---|---|
| Format: | Book |
| Published: |
EDP Sciences,
2024-01-01T00:00:00Z.
|
| Subjects: | |
| Online Access: | Connect to this object online. |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| Summary: | 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. |
|---|---|
| Item Description: | 2608-1326 10.1051/mbcb/2024003 |