![]() On admission to the NICU, the patient’s weight was 3,520 g, height was 47 cm and occipitofrontal circumference was 37 cm. His parents and sister were healthy, and his parents denied consanguineous marriage and any family history of genetic disease. His mother denied the history of consuming any toxic substances during her pregnancy and the prenatal examinations were normal. He was the second child born to a gravida 3, para 2 mother. The newborn was delivered naturally at 38 +2 weeks. Thus, he was admitted to the neonatal intensive care unit (NICU) of our hospital 1 day after birth. After receiving oxygen and anti-infective treatment at the local hospital, his conditions did not improve. We present the following case in accordance with the CARE Guideline ( 9).Ī male neonate developed dyspnea and laryngeal stridor shortly after birth. In this report, we described a unique case of typical CHARGE syndrome in a Chinese neonate who presented with various clinical manifestations, some of which hadn’t been reported in the case of the same site mutation. Considering currently reported prevalence worldwide, it is reasonable to believe that there is a high rate of underdiagnosis due to limited clinical recognition during neonatal period. proposed the diagnostic criteria based on clinical manifestations in 1998, and Verloes updated the criteria in 2005 ( 7, 8). It has been reported that the prevalence of CHARGE syndrome was about 1:8,500 to 1:15,000 and most individuals with CHARGE syndrome are sporadic ( 1, 5, 6). The chromodomain helicase DNA binding protein 7 ( CHD7) gene was discovered in 2004 and has been proved to be the main pathogenic gene involved in CHARGE syndrome ( 4). CHARGE is an acronym for coloboma, heart disease, atresia choanae, retarded growth, genital hypoplasia and, ear anomalies and deafness ( 3). It was first described and reported by Hall in 1979 and officially named CHARGE syndrome by Pagon et al. Accepted for publication Mar 10, 2020.ĬHARGE syndrome is a rare disorder characterized by a combination of multiple congenital anomalies and inherited in an autosomal dominant manner ( 1). Keywords: CHARGE syndrome phenotypic spectrum neonate CHD7 case report Clinicians should focus on providing supportive and corrective therapies in early treatment, particularly in controlling infection, and improving breathing and feeding. It also demonstrates that genetic analysis is essential in the diagnosis of CHARGE syndrome early in life. To our knowledge, this case broadens the clinical phenotypic spectrum of typical CHARGE syndrome in neonatal period due to the null mutation of CHD7 gene. The physicians provided symptomatic treatments for the patient which significantly alleviated his condition, including infection control, laryngoplasty, nasogastric tube feeding and respiratory support. Taken together, the patient was diagnostic confirmed as typical CHARGE syndrome. ![]() Later, the genetic analysis revealed a de novo null heterozygous pathogenic mutation in the patient’s CHD7 gene. Integrated analysis of the clinical manifestations and examinations suggested a diagnosis of CHARGE syndrome. During his stay in the neonatal intensive care unit of our hospital, the patient presented with various appearance abnormalities, severe dyspnea, dysphagia and recurrent infection. In this paper, we report a Chinese neonate with typical CHARGE syndrome. To date, the phenotype of neonatal CHARGE syndrome is still poorly recognized. The CHD7 gene was proved to be the major pathogenic gene in CHARGE syndrome. Interviews with Outstanding Guest EditorsĪbstract: CHARGE syndrome is a rare and complex disorder, causing multiple birth defects and sensory deficits.Policy of Dealing with Allegations of Research Misconduct. ![]() Policy of Screening for Plagiarism Process. ![]()
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