SATB2-associated syndrome and a splice-site variant

We present an 8-year-old female with a history of global developmental delay, esotropia, and hypotonia. She had several dental anomalies, including large upper incisors, dental crowding, and delayed tooth eruption. On physical exam, she was noted to have deeply set eyes, a flat philtrum, and a thin vermillion of the upper lip. Baseline studies included elevated blood phosphorus and alkaline phosphatase levels, with an increased bone-specific fraction, and a normal bone density scan. Exome sequencing revealed a de novo pathogenic variant SATB2:c.1741-1G>A, confirming the diagnosis of SATB2-associated syndrome (SAS). Considering the sparsity of individuals described in the literature with canonical splice site variants in the SATB2 gene, we present this individual with an otherwise recognizable phenotype.