Conclusion: CHARGE syndrome should be considered as a differential diagnosis to detect the mild end of the spectrum, even if the patient does not fit the criteria. Clinical studies involving patients with CHARGE syndrome report primary weaknesses in visuospatial construction, sequential processing, and selective attention. MLPA analysis of all coding exons of the CHD7 gene revealed no pathogenic deletion/duplication. CHARGE syndrome affects many areas of the body including: Coloboma, Heart defect, Atresia choanae, Retarded growth and development, Genital abnormality and Ear. Results: In the study population, 6 different mutations were detected in 5 patients, and 2 different polymorphisms were detected in the CHD7 gene in 3 patients. All patients were tested for karyotype analysis and CHD7 gene mutation/deletion. Participants completed a pain questionnaire and the NCCPC-R and PPP twice, once for a baseline measure and second during a painful experience for their child. The cleft lip and cleft palate repair may be delayed until after CTTI. Materials and methods: Twenty-one patients who had at least one of the major symptoms of CHARGE syndrome (coloboma, choanal atresia, characteristic ear anomalies, semicircular canal hypoplasia, and cranial nerve anomalies) were included in the study. Children with 22q11.2DS and CHARGE often present with cleft lip and/or palate 18,22,23,26,28, 30 31 32 33. Behavior in CHARGE syndrome: Introduction to the special topic. This study aimed to disclose the mild end of the phenotypic spectrum of CHARGE syndrome, which has a highly variable expressivity. The behavioral characteristics seen in CHARGE syndrome can have many causes including sensory impairments, a history of medical illness and intervention, and communication difficulties (Hartshorne, Hefner et al., 2005 Hartshorne, T. Background/aim: CHARGE syndrome is a rare autosomal dominant disease with multiple congenital anomalies and cognitive impairment, which is caused by mutations in the CHD7 gene. We found a persistent and homogeneous psychomotor profile and specific cognitive difficulties in 8 children with CHARGE syndrome despite their large range of IQs. The major diagnostic features of CHARGE syndrome include coloboma of the eyes, choanal atresia or stenosis, distinctive external ears, cranial nerve.
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