ReviewThe neuroradiology journal2018
Neuroimaging findings in Pallister-Killian syndrome.
Review in The neuroradiology journal, 2018. 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.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
9 citing papers in PubMed, 13 citations in OpenAlex.
- A Case of Pallister-Killian Syndrome in a Newborn.Case reports in genetics · 2026Article
- Strabismus in Genetic Syndromes: A Review.Clinical & experimental ophthalmology · 2025Review
- Structural brain abnormalities in Pallister-Killian syndrome: a neuroimaging study of 31 children.Orphanet journal of rare diseases · 2024Review
- Craniofacial disorders and dysplasias: Molecular, clinical, and management perspectives.Bone reports · 2024Review
- Case Report: Early Neonatal EEG in Two Infants with Pallister Killian Syndrome (PKS).HRB open research · 2022Article
- Case Report: A Case Study on the Neurodevelopmental Profile of a Child With Pallister-Killian Syndrome and His Unaffected Twin.Frontiers in pediatrics · 2022Article
- Genetic disorders with central nervous system white matter abnormalities: An update.Clinical genetics · 2021Review
- A Novel Case of Tethered Cord in a Five-Month-Old Male With Pallister-Killian Syndrome.Cureus · 2020Article
- Pallister-Killian Mosaic Syndrome in an Omani Newborn: A Case Report and Literature Review.Oman medical journal · 2019Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Pallister-Killian syndrome (PKS) is a rare chromosomal duplication disorder caused by additional copies of the short arm of chromosome 12 (12p). Clinically PKS is characterized by craniofacial dysmorphism with neonatal frontotemporal alopecia, hypertelorism, and low-set ears as well as kyphoscoliosis, severe intellectual disability, epilepsy, and abnormal muscle tone. Comprehensive high-resolution brain MR findings of PKS in childhood have not been previously illustrated in the medical literature. We present detailed neuroimaging findings from a child with PKS and thoroughly review previously reported structural brain abnormalities in this patient population. MRI abnormalities common to PKS include cerebral volume loss, malformations of cortical development, corpus callosum dysgenesis, white matter disease, and craniofacial malformations. In our patient, new findings of perisylvian with occipital polymicrogyria, vermian dysplasia, brachium pontis signal abnormality, dural anomalies, and unilateral atlas assimilation were noted. Micrencephaly and cortical dysplasia provide a likely explanation for severe intellectual disability and epilepsy in this patient population.
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What OpenQuestion holds
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.