The case presented highlights a unique presentation of coloboma, heart defects, atresia choanae, growth retardation, genital abnormalities, and ear anomalies (CHARGE) syndrome along with athymia and heterotaxy to establish a possible association between these 2 well-known patterns of multiple malformations.
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| http://dx.doi.org/10.1016/j.jacig.2025.100416 | DOI Listing |
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[Clinical features of CHARGE syndrome in children].
Zhonghua Yan Ke Za Zhi
March 2025
Department of Ophthalmology, Xijing Hospital, Air Force Military Medical University, Eye Institute of Chinese PLA, Xi'an 710032, China.
To analyze the ocular and systemic clinical features of children with CHARGE syndrome, which is a congenital autosomal dominant developmental disorder mainly characterized by coloboma (C), heart disease (H), atresia choanae (A), retarded growth and central nervous system anomalies (R), genital hypoplasia (G), and ear anomalies and deafness (E). This was a retrospective caseseries study. Eight children (16 eyes) with CHARGE syndrome who visited the Department of Ophthalmology, Xijing Hospital, Air Force Medical University from January 2018 to December 2022 were included in this study.
View Article and Find Full Text PDFManagement of anophthalmia, microphthalmia and coloboma in the newborn, shared care between neonatologist and ophthalmologist: a literature review.
Ital J Pediatr
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Operative Unit of Neonatology, IRCCS Ospedale Policlinico San Martino, Genoa, 16132, Italy.
Congenital ocular anomalies significantly contribute to global disability, with 15-20% of infant blindness attributed to these anomalies. This study examined anophthalmia, microphthalmia, and coloboma (AMC) through collaborative neonatology and ophthalmology care.The global prevalence of AMC varies: anophthalmia at 0.
View Article and Find Full Text PDFThe case presented highlights a unique presentation of coloboma, heart defects, atresia choanae, growth retardation, genital abnormalities, and ear anomalies (CHARGE) syndrome along with athymia and heterotaxy to establish a possible association between these 2 well-known patterns of multiple malformations.
View Article and Find Full Text PDFCHARGE syndrome (CS) is a genetic disorder caused by pathogenic variants within chromodomainhelicase DNA-binding protein 7 (CHD7). The classical presentation includes coloboma,congenital heart defects, atresia of the choanae, retardation of development, genital hypoplasia, andear anomalies. Clinical presentation varies widely by type and severity.
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Kabuki syndrome is a rare congenital malformation with typical facial features, skeletal anomalies, delayed neuropsychomotor development and growth, and cardiac, genitourinary, gastrointestinal, endocrine, and dental anomalies. One of the main differential diagnoses is CHARGE syndrome, standing for and characterized by Coloboma of the eye, Heart defects, Atresia of the nasal choanae, Restricted intellectual development, Genitourinary malformations, and Ear anomalies. Because these syndromes have similar characteristics, distinguishing them may be challenging.
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