Abstract
Both CHARGE syndrome and DiGeorge anomaly are frequently accompanied by cardiovascular malformations. Some specific cardiovascular malformations such as interrupted aortic arch type B and truncus arteriosus are frequently associated with 22q11.2 deletion syndrome, while conotruncal defects and atrioventricular septal defects are overrepresented in patients with CHARGE syndrome. CHD7 gene mutation is identified in approximately two-thirds of patients with CHARGE syndrome, and chromosomal microdeletion at 22q11.2 is found in more than 95% of patients with 22q11.2 deletion syndrome. CHARGE syndrome is occasionally accompanied by DiGeorge phenotype. We report two patients with dysmorphic features of both CHARGE syndrome and 22q11.2 deletion syndrome. Although both of the two cases did not have 22q11.2 deletion, they had typical dysmorphic features of 22q11.2 deletion syndrome including cardiovascular malformations such as interrupted aortic arch type B. They also had characteristic features of CHARGE syndrome including ear malformation, genital hypoplasia, limb malformation, and endocrinological disorders. CHD7 gene mutation was confirmed in one of the two cases. When a patient with cardiovascular malformations frequently associated with 22q11.2 deletion syndrome does not have 22q11.2 deletion, we suggest that associated malformations characteristic of CHARGE syndrome should be searched for.
Highlights
CHARGE syndrome is a pleiotropic disorder, the name of which is derived from the acronym summarizing its six clinical features: ocular coloboma, heart defects, choanal atresia, retardation of growth/development, genital anomalies, and ear anomalies/deafness
DiGeorge anomaly is characterized by thymic deficiency, hypoparathyroidism, and cardiovascular malformation, and it is recognized that 22q11.2 deletion syndrome encompasses the phenotypes previously described as DiGeorge anomaly [2]
22q11.2 deletion syndrome is frequently accompanied by cardiovascular malformations such as conotruncal anomalies, interrupted aortic arch, right aortic arch, and aberrant origin of the subclavian artery [6]
Summary
CHARGE syndrome is a pleiotropic disorder, the name of which is derived from the acronym summarizing its six clinical features: ocular coloboma, heart defects, choanal atresia, retardation of growth/development, genital anomalies, and ear anomalies/deafness. CHD7 is the only gene mutation of which is known to cause CHARGE syndrome, and the mutation is identified in approximately two-thirds of patients with a clinical diagnosis of CHARGE syndrome [1]. DiGeorge anomaly is characterized by thymic deficiency, hypoparathyroidism, and cardiovascular malformation, and it is recognized that 22q11.2 deletion syndrome encompasses the phenotypes previously described as DiGeorge anomaly [2]. We here report two patients with dysmorphic features of both CHARGE syndrome and 22q11.2 deletion syndrome and especially describe their cardiovascular malformations
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