Deep phenotyping of the neuroimaging and skeletal features in KBG syndrome: a study of 53 patients and review of the literature

KBG syndrome is a rare neurodevelopmental disorder caused by heterozygous variants in the ANKRD11 gene and is one of the most prevalent genetic syndromes. Many reports over the years have delineated the variable phenotypic spectrum of this condition but the skeletal and in particular the neuroimaging features remain poorly defined.

We have systematically analyzed the diagnostic imaging of 53 individuals with a molecularly confirmed diagnosis of KBG syndrome. This unique cohort has allowed us to deep-phenotype KBG-related brain, spine, and skeletal anomalies, and to describe their natural history. Our results fit into a broader understanding of this syndrome and will aid clinicians in the management of individuals with KBG syndrome. (By Dr. Francesca Peluso, https://jmg.bmj.com/content/early/2023/08/15/jmg-2023-109141 )

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