The paper presents a clinical case of congenital cleft palate as a manifestation of 22q11.2 deletion syndrome accompanied by other systemic disorders having direct impact on functional indicators and perioperative period during cleft surgery. Specific for 22q11.2 deletion syndrome endocrine disorders affect the facial development. Multidisciplinary approach contributes to the early optimal treatment outcome and prevents further postoperative disturbances in maxillofacial development.
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Department of Maternal Infantile and Urological Sciences, Sapienza University of Rome, 00161 Rome, Italy.
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Neuroimmunology and Neuroinflammation Group, Instituto de Investigación Biomédica de Málaga (IBIMA), Málaga, Spain.
Chromosome 22q11.2 deletion syndrome (22q11DS) is characterized by congenital cardiac abnormalities, hypoplastic thymus, palatal abnormalities, and hypocalcemia, although other clinical features are frequent such as autoimmune and psychiatric disorders. One-third of the patients have psychotic disorders, frequently followed by developmental regression and long-term cognitive disturbances.
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Department of Neurology, Pusan National University School of Medicine, Research Institute for Convergence of Biomedical Science and Technology, Pusan National University Yangsan Hospital, Yangsan, South Korea.
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The paper presents a clinical case of congenital cleft palate as a manifestation of 22q11.2 deletion syndrome accompanied by other systemic disorders having direct impact on functional indicators and perioperative period during cleft surgery. Specific for 22q11.
View Article and Find Full Text PDFComparing the broad socio-cognitive profile of youth with Williams syndrome and 22q11.2 deletion syndrome.
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Background: Numerous studies have assessed the socio-cognitive profile in Williams syndrome (WS) and, independently, in 22q11.2 deletion syndrome (22q11.2DS).
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