Article
Expanding the Evaluation of Skeletal Anomalies in Patients With KBG Syndrome: Recommendations for Clinical Practice.
American journal of medical genetics. Part A - 1 Jun 2026
van der Leij Marit, de Groot Emilie, Orlandini Eleonora, Klein Willemijn M, Ockeloen Charlotte W, Geelen Joyce M
Abstract excerpt
KBG syndrome is a rare autosomal dominant neurodevelopmental disorder caused by ANKRD11 haploinsufficiency and is characterized by short stature, distinctive facial features, intellectual disability or developmental delay, congenital anomalies and skeletal anomalies. Although skeletal anomalies are reported in about 75% of cases, their nature and extent in relation to growth are largely unknown. Therefore, this...
Topics
- Humans
- Intellectual Disability
- Female
- Abnormalities, Multiple
- Child
- Male
- Child, Preschool
- Adolescent
- Tooth Abnormalities
- Radiography
- Repressor Proteins
- Spine
- Retrospective Studies
- Infant
- Phenotype
- Adult
- Bone Diseases, Developmental
- Facies