![]() ![]() In this case, atrial septal defect (ASD), displaced aortic orifice, and persisted aortico-pulmonary trunk were noticed. Additionally, recent findings have provided compelling evidence that indicate the link between the neurodevelopment with congenital heart diseases (Webb et al. Dynamics of the developing heart, in particular compartmentalization of cardiac cavity and vascular septation, are not merely governed by cardiac tissue cellular factors, but there are extrinsic factors migrating to developing heart such as neural crest cells (Morton et al. Cardiac development is a complex dynamic process which begins at the 4th week. Considering the plethora of clinical case report and series, the presented case will be discussed from developmental perspective. The case we presented showed cardiac anomalies, gastrointestinal malrotation, visceral herniation, and unilateral kidney anomaly. Occasional findings involve musculoskeletal anomalies and malformation. Additionally, there is a third group of criteria, occasional findings, that are more prevalent than originally predicted (Issekutz et al., 2005 Schussler et al. Minor criteria are cardiovascular malformations, genital hypoplasia, cleft lip/palate, and tracheoesophageal fistula. Accordingly, major criteria or 4Cs include coloboma, choanal atresia, cranial nerve anomalies, and characteristic ear anomalies. ![]() In 1998, a group of experts defined major and minor criteria of CS (Blake et al., 1998). 2019 van Ravenswaaij-Arts and Martin 2017 de Geus et al., 2017 Hudson et al. There are many reports that have dealt with CS extensively (Sánchez et al. ![]() 5).ĬHARGE syndrome (CS) is known for causing a wide variety of developmental anomalies. Further inspection revealed that the parietal peritoneum on the kidneys on both side were absent, and the left kidney was cystic (Fig. Parts of small intestine herniated into lesser sac, which was exposed after dissecting the attachment of greater omentum to the stomach (Fig. The ascending colon was absent while the descending colon and sigmoid displaced to the right side (Fig. Descending duodenum (second portion) ended to a closed pouch, and pancreas was absent (Fig. Then, the abdominal wall was dissected carefully, and the viscera were inspected (Fig. Pulmonary trunk and aorta were not fully separated (3). Aortic orifice overrode from both ventricles (Fig. Heart dissection revealed atrial septal defect (ASD) (Fig. We observed a series of cardiac, gastrointestinal, and renal anomalies. Next step, the abdominal wall was dissected and peritoneal cavity exposed carefully. Then, heart and lungs were dissected and examined meticulously. Firstly, the skin and subcutaneous tissue were removed and thoracic cavity contents exposed. The dissection was conducted from superficial to deep planes. All protocols were done according to the ethics and regulation of research with human subjects of North Khorasan University of Medical Sciences. The fetus was transferred to the dissecting lab. The mother had no history of infectious disease during pregnancy or metabolic disorders. ![]() The prenatal diagnosis of CHARGE syndrome was confirmed based on tympanic ring anomaly and also on mother’s coloboma history. Here, we are reporting a CHARGE syndrome with cardiac outflow tract anomalies and severe intestinal and renal malformations.ĭuring a routine educational dissection of a donated 22 weeks’ male fetus with prenatal diagnosed CHARGE syndrome, a wide spectrum of multiple anomalies was observed. Minor criteria are characterized with cardiovascular anomalies such as Fallot tetralogy, genital hypoplasia, orofacial cleft, and tracheoesophageal fistula (Anderzén-Carlsson 2015). Major criteria include ocular coloboma, choanal atresia/stenosis, cranial nerve anomalies, and ear anomalies. The minor criteria occur less frequently or are less specific to CHARGE syndrome (Blake and Prasad 2006). Major criteria are those findings that occur commonly in CHARGE syndrome but are relatively rare in other conditions. Nowadays, it is defined as major, minor, and occasional criteria. The CHARGE association criteria were originally proposed by Pagon (Pagon et al. Complex heart defects, bilateral choanal atresia, esophageal atresia, severe T cell deficiency, and brain anomalies can cause neonatal death (Bergman et al. CHARGE syndrome or Hall-Hittner syndrome is a rare multiple congenital anomaly syndrome that can be life threatening in the neonatal period. ![]()
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