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  • Title: [Kabuki make-up syndrome. A report of 18 Spanish cases].
    Author: Pascual-Castroviejo I, Pascual-Pascual SI, Velázquez-Fragua R, Palencia R.
    Journal: Rev Neurol; ; 40(8):473-8. PubMed ID: 15861328.
    Abstract:
    AIM: To present 18 cases of Kabuki make-up syndrome with the associated morphological and neurological alterations. CASE REPORTS: The series consists of 18 patients, 14 males and 4 females, who show the peculiar facial morphology of this disease. Ten cases were studied between 1968 and 1978, before the description of the syndrome. Most of these patients are now over 30 years and two perhaps surmounting the 40, if surviving. The other 8 cases were studied during the last 20 years (a few within the last 3 years). The studies of the patients were anamnesis with genetic history, EEG, image, cytogenetic, laboratory studies, and mental evaluation when the patients collaborated. The most important findings are the peculiar facial characteristics as well as the psychomotor and language retardation, the persistent fingertip pads and clinodactyly that were observed in all patients. Other studies, such as EEG, caryotype, biochemical investigation in blood, urine and CSF (in the studied cases), and the cerebral neuroradiological images (pneumoencephalography, CT or MR) disclosed normal results. None of the patients of this series were neurologically normal. Hyperactivity, respiratory infection and/or otitis were frequently observed. CONCLUSION: Kabuki make-up syndrome is a dysmorphologic and neurological disease of unknown origin. Its main manifestations involve facial appearance and brain function without anatomical anomalies. None of the patients was sent to the Pediatric Neurology service with the suspicion of Kabuki make-up syndrome.
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