Polymicrogyria with calcification in Pallister-Killian syndrome detected by microarray analysis
Sign Up to like & getrecommendations! Published in 2021 at "Brain and Development"
DOI: 10.1016/j.braindev.2020.11.003
Abstract: BACKGROUND Pallister-Killian syndrome (PKS) is a rare disorder caused by the mosaic tetrasomy of chromosome 12p, and is characterized by facial dysmorphism, developmental delay, hypotonia and seizures. RESULTS We report a patient with PKS showing… read more here.
Keywords: analysis; calcification; pallister killian; killian syndrome ... See more keywords
Clinical Variability of Pallister-Killian Syndrome in Two Egyptian Patients.
Sign Up to like & getrecommendations! Published in 2020 at "Journal of pediatric genetics"
DOI: 10.1055/s-0039-3400489
Abstract: Pallister-Killian syndrome (PKS) is a rare sporadic genetic disorder caused by a mosaic tetrasomy of chromosome 12p, which mainly manifests with craniofacial dysmorphism, intellectual disability (ID), auditory disturbance, epilepsy, and a variety of congenital malformations.… read more here.
Keywords: killian syndrome; clinical variability; variability pallister; pallister killian ... See more keywords
Sleep in Children With Pallister Killian Syndrome: A Prospective Clinical and Videopolysomnographic Study
Sign Up to like & getrecommendations! Published in 2021 at "Frontiers in Neurology"
DOI: 10.3389/fneur.2021.796828
Abstract: Objectives: Pallister-Killian syndrome (PKS) is a rare genetic disorder with multi-organ involvement caused by mosaic tetrasomy of chromosome 12p. Although many caregivers report the presence of impaired sleep in their children, there are no clear… read more here.
Keywords: study; pallister killian; pks; killian syndrome ... See more keywords
Case Report: A Case Study on the Neurodevelopmental Profile of a Child With Pallister–Killian Syndrome and His Unaffected Twin
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Pediatrics"
DOI: 10.3389/fped.2022.817133
Abstract: Pallister–Killian syndrome is an uncommon genetic disorder that has broad developmental and multisystemic effects. While medical complications are widely reported throughout the literature, research on the neurodevelopmental profile has been limited. Case reports make up… read more here.
Keywords: killian syndrome; case report; pallister killian; case ... See more keywords
Cognitive, Behavioral, and Sensory Profile of Pallister–Killian Syndrome: A Prospective Study of 22 Individuals
Sign Up to like & getrecommendations! Published in 2022 at "Genes"
DOI: 10.3390/genes13020356
Abstract: Background: Developmental delay and intellectual disability are two pivotal elements of the phenotype of Pallister–Killian Syndrome (PKS). Our study aims to define the cognitive, adaptive, behavioral, and sensory profile of these patients and to evaluate… read more here.
Keywords: syndrome; study; pallister killian; sensory ... See more keywords
Ductus Venosus Agenesis as a Marker of Pallister–Killian Syndrome
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DOI: 10.3390/medicina55070374
Abstract: The ductus venosus (DV) is a shunt that allows the direct flow of well-oxygenated blood from the umbilical vein (UV) to the coronary and cerebral circulation through the foramen ovale. Its agenesis has been associated… read more here.
Keywords: killian syndrome; ductus venosus; agenesis; pallister killian ... See more keywords
Pallister-Killian Mosaic Syndrome in an Omani Newborn: A Case Report and Literature Review
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DOI: 10.5001/omj.2019.47
Abstract: Pallister-Killian mosaic syndrome (PKS) is a rare sporadic condition with multiple congenital anomalies and intellectual deficits caused by mosaic tissue-limited tetrasomy of the short arm of chromosome 12 (12p). The clinical features are highly variable,… read more here.
Keywords: killian mosaic; mosaic syndrome; pallister killian; case ... See more keywords
Síndrome de Pallister-Killian en una paciente mestiza mexicana: Reporte de caso
Sign Up to like & getrecommendations! Published in 2018 at "Archivos Argentinos De Pediatria"
DOI: 10.5546/aap.2018.e135
Abstract: Pallister-Killian syndrome is caused by a tetrasomy 12p mosaicism and is characterized by facial dysmorphism, pigmentary skin anomalies, congenital heart defects, diaphragmatic hernia, epilepsy and mental retardation. The diagnosis is complex as the cytogenetic analysis… read more here.
Keywords: pallister; paciente mestiza; pallister killian; ndrome pallister ... See more keywords