Progressive maxillofacial osteo-condensation revealing a de NOVO mutation of the SATB2 gene in a young woman

SATB2-associated syndrome (SAS) is a rare genetic dysmorphic syndrome. The mechanism of haploinsufficiency of the SATB2 gene, located at 2q32-q33, is thought to be responsible for pathogenic variants. This study aims to present the clinical phenotype and maxillofacial management of a patient carrying a de novo mutation of the SATB2 gene. We present the case of a patient with a de novo heterozygous pathogenic variant of the SATB2 gene, who presented with intellectual disability without radiological brain abnormalities associated with cleft palate, retrognathia and microstomia, dental abnormalities without dactylological abnormalities. High maxillomandibular bone density was observed. It is an exceptional report because of the progressive densification of the bine.This case broadens the phenotypic spectrum of clinical abnormalities associated with the SATB2 gene. It also highlights the importance of genetic analysis in complex craniofacial malformations.