Diagnosis challenges in CHARGE syndrome: A novel variant and clinical description
Introduction: In resource-limited settings, patients with uncommon phenotypes often face prolonged diagnostic journeys and potential misdiagnoses. Coloboma, heart defects, atresia choanae, restricted growth and development, genital and ear abnormalities syndrome (CHARGE) syndrome, a congenital condi...
| Main Authors: | , , |
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| Format: | Article |
| Language: | English |
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Elsevier
2024-03-01
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| Series: | Heliyon |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2405844024040556 |
| _version_ | 1797224117167980544 |
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| author | Samantha Saenz Hinojosa Carlos Reyes Vanessa I. Romero |
| author_facet | Samantha Saenz Hinojosa Carlos Reyes Vanessa I. Romero |
| author_sort | Samantha Saenz Hinojosa |
| collection | DOAJ |
| description | Introduction: In resource-limited settings, patients with uncommon phenotypes often face prolonged diagnostic journeys and potential misdiagnoses. Coloboma, heart defects, atresia choanae, restricted growth and development, genital and ear abnormalities syndrome (CHARGE) syndrome, a congenital condition affecting various body parts such as the heart, ears, eyes, and genitals, exemplifies this challenge. Case presentation: We present the case of a 21-year-old male patient from Ecuador who exhibited hypogonadism, facial deformities, and stunted growth. Due to the scarcity of genetic specialists and limited access to genetic testing in Ecuador, the patient received a misdiagnosis of Noonan syndrome. However, a correct diagnosis of CHARGE syndrome was ultimately reached after eight years, facilitated by genetic sequencing that identified a novel mutation in the Chromodomain helicase DNA binding protein 7 gene. Conclusion: This case highlights the critical role of meticulously assessing patients' symptoms and emphasizes the necessity for enhanced collaboration among physicians and researchers. Such efforts are pivotal in advancing healthcare access and equity for individuals in developing nations. |
| first_indexed | 2024-04-24T13:48:01Z |
| format | Article |
| id | doaj.art-34db202f3820471cb0c7cef64aa6f3e3 |
| institution | Directory Open Access Journal |
| issn | 2405-8440 |
| language | English |
| last_indexed | 2024-04-24T13:48:01Z |
| publishDate | 2024-03-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Heliyon |
| spelling | doaj.art-34db202f3820471cb0c7cef64aa6f3e32024-04-04T05:06:38ZengElsevierHeliyon2405-84402024-03-01106e28024Diagnosis challenges in CHARGE syndrome: A novel variant and clinical descriptionSamantha Saenz Hinojosa0Carlos Reyes1Vanessa I. Romero2School of Medicine, Universidad San Francisco de Quito, Quito, EcuadorGenetics Department, Hospital de Especialidades Eugenio Espejo, Quito, EcuadorSchool of Medicine, Universidad San Francisco de Quito, Quito, Ecuador; Corresponding author.Introduction: In resource-limited settings, patients with uncommon phenotypes often face prolonged diagnostic journeys and potential misdiagnoses. Coloboma, heart defects, atresia choanae, restricted growth and development, genital and ear abnormalities syndrome (CHARGE) syndrome, a congenital condition affecting various body parts such as the heart, ears, eyes, and genitals, exemplifies this challenge. Case presentation: We present the case of a 21-year-old male patient from Ecuador who exhibited hypogonadism, facial deformities, and stunted growth. Due to the scarcity of genetic specialists and limited access to genetic testing in Ecuador, the patient received a misdiagnosis of Noonan syndrome. However, a correct diagnosis of CHARGE syndrome was ultimately reached after eight years, facilitated by genetic sequencing that identified a novel mutation in the Chromodomain helicase DNA binding protein 7 gene. Conclusion: This case highlights the critical role of meticulously assessing patients' symptoms and emphasizes the necessity for enhanced collaboration among physicians and researchers. Such efforts are pivotal in advancing healthcare access and equity for individuals in developing nations.http://www.sciencedirect.com/science/article/pii/S2405844024040556CHARGE syndromeGenetic testingMisdiagnosisCHD7Noonan syndrome |
| spellingShingle | Samantha Saenz Hinojosa Carlos Reyes Vanessa I. Romero Diagnosis challenges in CHARGE syndrome: A novel variant and clinical description Heliyon CHARGE syndrome Genetic testing Misdiagnosis CHD7 Noonan syndrome |
| title | Diagnosis challenges in CHARGE syndrome: A novel variant and clinical description |
| title_full | Diagnosis challenges in CHARGE syndrome: A novel variant and clinical description |
| title_fullStr | Diagnosis challenges in CHARGE syndrome: A novel variant and clinical description |
| title_full_unstemmed | Diagnosis challenges in CHARGE syndrome: A novel variant and clinical description |
| title_short | Diagnosis challenges in CHARGE syndrome: A novel variant and clinical description |
| title_sort | diagnosis challenges in charge syndrome a novel variant and clinical description |
| topic | CHARGE syndrome Genetic testing Misdiagnosis CHD7 Noonan syndrome |
| url | http://www.sciencedirect.com/science/article/pii/S2405844024040556 |
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