ReviewJournal of medical genetics2023
Deep phenotyping of the neuroimaging and skeletal features in KBG syndrome: a study of 53 patients and review of the literature.
Review in Journal of medical genetics, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
9 citing papers in PubMed, 13 citations in OpenAlex.
- Expanding the KBG syndrome phenotype through 2D facial morphometry, clinical and molecular characterization.Biomedical reports · 2026Article
- Case Report: Sustained Cognitive Improvement and Reversible Brain Hypoperfusion in the Context of Posterior Fossa Arachnoid Cyst Shunting Procedure in KBG Syndrome.Cerebellum (London, England) · 2026Article
- Insights into ANKRD11-related epilepsy from 163 people.Epilepsia · 2026Article
- Recognizing KBG syndrome in pediatric practice: a case series highlighting phenotypic variability and diagnostic clues.Frontiers in pediatrics · 2026Article
- A novel heterozygous mutation ofFrontiers in pediatrics · 2025Article
- Insights into the ANKRD11 variants and short-stature phenotype through literature review and ClinVar database search.Orphanet journal of rare diseases · 2024Review
- Olfactory bulb anomalies in KBG syndrome mouse model and patients.BMC medicine · 2024Article
- Functional investigation of a novelHeliyon · 2024Article
- Epileptic dyskinetic encephalopathy in KBG syndrome: Expansion of the phenotype.Epilepsy & behavior reports · 2024Article
Corrections and comments
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Authors and funding
65 authors at 20 institutions in 12 countries.
Funding
Abstract
backgroundKBG syndrome is caused by haploinsufficiency of
methodsCNS and/or skeletal imaging were collected from molecularly confirmed individuals with KBG syndrome through an international network. We evaluated the original imaging and compared our results with data in the literature.
resultsWe identified 53 individuals, 44 with CNS and 40 with skeletal imaging. Common CNS findings included incomplete hippocampal inversion and posterior fossa malformations; these were significantly more common than previously reported (63.4% and 65.9% vs 1.1% and 24.7%, respectively). Additional features included patulous internal auditory canal, never described before in KBG syndrome, and the recurrence of ventriculomegaly, encephalic cysts, empty sella and low-lying conus medullaris. We found no correlation between these structural anomalies and epilepsy or intellectual disability. Prevalent skeletal findings comprised abnormalities of the spine including scoliosis, coccygeal anomalies and cervical ribs. Hand X-rays revealed frequent abnormalities of carpal bone morphology and maturation, including a greater delay in ossification compared with metacarpal/phalanx bones.
conclusionThis cohort enabled us to describe the prevalence of very heterogeneous neuroradiological and skeletal anomalies in KBG syndrome. Knowledge of the spectrum of such anomalies will aid diagnostic accuracy, improve patient care and provide a reference for future research on the effects of
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.