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Ugeskrift for laeger, 2010
A clinical case of the rare Kabuki syndrome is described in a 2-year-old boy. At the time of birth he was diagnosed with cleft palate and from the age of six months he presented with unusual facial features and slow psychomotoric development. At the age of two he has no language and only minimal speech perception and is showing signs of growth ...
Rikke Børthy, Petersen +2 more
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A clinical case of the rare Kabuki syndrome is described in a 2-year-old boy. At the time of birth he was diagnosed with cleft palate and from the age of six months he presented with unusual facial features and slow psychomotoric development. At the age of two he has no language and only minimal speech perception and is showing signs of growth ...
Rikke Børthy, Petersen +2 more
openaire +1 more source
Acanthosis Nigricans in Kabuki Syndrome
Journal of Cutaneous Medicine and Surgery, 2004Background Acanthosis nigricans has been classified in different ways. All classifications depend on the clinical picture and the association with other conditions. Objective We report a case of acanthosis nigricans in a patient with ...
Simone S, Fahim, John E, Adam
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Unraveling molecular pathways shared by Kabuki and Kabuki‐like syndromes
Clinical Genetics, 2017Kabuki syndrome (KS) is a rare genetic syndrome characterized by a typical facial gestalt, variable degrees of intellectual disability, organ malformations, postnatal growth retardation and skeletal abnormalities. So far, KMT2D or KDM6A mutation has been identified as the main cause of KS, accounting for 56%‐75% and 3%‐8% of cases, respectively ...
Lintas, C., Persico, A. M.
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Orvosi hetilap, 1995
Kabuki syndrome is characterised by a peculiar face resembling the make-up of actors in Kabuki, the traditional Japanese theatre, postnatal growth deficiency, mild to moderate mental retardation, unusual dermatoglyphic patterns, and various skeletal and visceral anomalies.
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Kabuki syndrome is characterised by a peculiar face resembling the make-up of actors in Kabuki, the traditional Japanese theatre, postnatal growth deficiency, mild to moderate mental retardation, unusual dermatoglyphic patterns, and various skeletal and visceral anomalies.
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Kabuki syndrome. A clinical approach
Medicina Clínica (English Edition), 2022Fidel, Asensio Fierro +2 more
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Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome
American Journal of Medical Genetics, Part A, 2011Graeme Black +2 more
exaly