Search results for "KBG syndrome"
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Electroclinical features and outcome of ANKRD11-related KBG syndrome: A novel report and literature review.
2021
KBG syndrome (OMIM #148050) is a rare autosomal dominant disorder, typically characterized by macrodontia of the upper central incisors, distinct craniofacial findings, short stature, and skeletal anomalies associated with neurological involvement including intellectual disability, behaviour difficulties, and epilepsy. KBG syndrome is associated with mutations in ANKRD11 gene that plays a chromatin regulator role of histone acetylation and gene expression during neurogenesis in the embryonic brain.
Adhesive capsulitis in a patient affected by KBG Syndrome
2021
Background and Case presentation: KBG syndrome is a multiple congenital anomaly syndrome with variable presentation. Many physical anomalies also affect the orthopaedic field. We present a case of a young woman with diagnosis of KBG syndrome that is also affected by joint stiffness and adhesive capsulitis to the shoulders. Discussion: Many other cases have been reported to present joint stiffness and formation of keloids. Adhesive capsulitis is known to be related to autoimmune pathologies and endocrinological disorders. KBG syndrome is caused by heterozygous mutation in ANKRD11 gene and few patients with hypermobility of the joints have also been reported. Conclusions: The KBG syndrome mig…