Airway Challenges in a Child with Treacher Collins Syndrome having Ventricular Septal Defect, Oculofacial Malformations and Oesophageal Atresia: A Case Report
Treacher Collins Syndrome (TCS), also known as Franceschetti syndrome, is an autosomal dominant condition marked by various developmental anomalies confined to the head and face. It primarily affects craniofacial structures derived from the first and second branchial arches. Patients usually present...
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| Format: | Article |
| Language: | English |
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JCDR Research and Publications Private Limited
2024-04-01
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| Series: | Journal of Clinical and Diagnostic Research |
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| Online Access: | https://www.jcdr.net/articles/PDF/19264/69524_CE[Ra1]_F(IS)_QC(KK_IS)_PF1(RI_DK_OM)_PFA_NC(RI_KM)_PN(KM).pdf |
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| author | Janhavi Dahake Neeta Verma |
| author_facet | Janhavi Dahake Neeta Verma |
| author_sort | Janhavi Dahake |
| collection | DOAJ |
| description | Treacher Collins Syndrome (TCS), also known as Franceschetti syndrome, is an autosomal dominant condition marked by various developmental anomalies confined to the head and face. It primarily affects craniofacial structures derived from the first and second branchial arches. Patients usually present with down-slanting palpebral fissures, mandibular hypoplasia, lower eyelid colobomas, external ear malformations, and hearing loss. Congenital heart defects and cryptorchidism are two other unusual anomalies. It is typically a bilateral condition. The symptoms and physical features of TCS can vary greatly from person to person. Some individuals may be affected so mildly that their condition goes undiagnosed, whereas others may develop serious, life-threatening complications. Individuals with TCS may require specialised airway management due to a narrow mouth aperture and micrognathia. They are best served by an interprofessional team that can coordinate all aspects of their care. Timely detection and management can improve the quality of life for these patients. The present case report presents the airway challenges in an eight-year-old child with TCS who has congenital malformations and presented with swallowing difficulty, which was later diagnosed as oesophageal atresia. |
| first_indexed | 2024-04-24T16:27:54Z |
| format | Article |
| id | doaj.art-3131de74ec2144f697058bbd771a156e |
| institution | Directory Open Access Journal |
| issn | 2249-782X 0973-709X |
| language | English |
| last_indexed | 2024-04-24T16:27:54Z |
| publishDate | 2024-04-01 |
| publisher | JCDR Research and Publications Private Limited |
| record_format | Article |
| series | Journal of Clinical and Diagnostic Research |
| spelling | doaj.art-3131de74ec2144f697058bbd771a156e2024-03-30T10:27:46ZengJCDR Research and Publications Private LimitedJournal of Clinical and Diagnostic Research2249-782X0973-709X2024-04-011804030510.7860/JCDR/2024/69524.19264Airway Challenges in a Child with Treacher Collins Syndrome having Ventricular Septal Defect, Oculofacial Malformations and Oesophageal Atresia: A Case ReportJanhavi Dahake0Neeta Verma1Junior Resident, Department of Anaesthesia, Jawaharlal Nehru Medical College, Datta Meghe Institute of Higher Education and Research, Wardha, Maharashtra, India.Professor, Department of Anaesthesia, Jawaharlal Nehru Medical College, Datta Meghe Institute of Higher Education and Research, Wardha, Maharashtra, India.Treacher Collins Syndrome (TCS), also known as Franceschetti syndrome, is an autosomal dominant condition marked by various developmental anomalies confined to the head and face. It primarily affects craniofacial structures derived from the first and second branchial arches. Patients usually present with down-slanting palpebral fissures, mandibular hypoplasia, lower eyelid colobomas, external ear malformations, and hearing loss. Congenital heart defects and cryptorchidism are two other unusual anomalies. It is typically a bilateral condition. The symptoms and physical features of TCS can vary greatly from person to person. Some individuals may be affected so mildly that their condition goes undiagnosed, whereas others may develop serious, life-threatening complications. Individuals with TCS may require specialised airway management due to a narrow mouth aperture and micrognathia. They are best served by an interprofessional team that can coordinate all aspects of their care. Timely detection and management can improve the quality of life for these patients. The present case report presents the airway challenges in an eight-year-old child with TCS who has congenital malformations and presented with swallowing difficulty, which was later diagnosed as oesophageal atresia.https://www.jcdr.net/articles/PDF/19264/69524_CE[Ra1]_F(IS)_QC(KK_IS)_PF1(RI_DK_OM)_PFA_NC(RI_KM)_PN(KM).pdfairway obstructioncongenital anomaliesdevelopmental disordersoesophageal dilatation |
| spellingShingle | Janhavi Dahake Neeta Verma Airway Challenges in a Child with Treacher Collins Syndrome having Ventricular Septal Defect, Oculofacial Malformations and Oesophageal Atresia: A Case Report Journal of Clinical and Diagnostic Research airway obstruction congenital anomalies developmental disorders oesophageal dilatation |
| title | Airway Challenges in a Child with Treacher Collins Syndrome having Ventricular Septal Defect, Oculofacial Malformations and Oesophageal Atresia: A Case Report |
| title_full | Airway Challenges in a Child with Treacher Collins Syndrome having Ventricular Septal Defect, Oculofacial Malformations and Oesophageal Atresia: A Case Report |
| title_fullStr | Airway Challenges in a Child with Treacher Collins Syndrome having Ventricular Septal Defect, Oculofacial Malformations and Oesophageal Atresia: A Case Report |
| title_full_unstemmed | Airway Challenges in a Child with Treacher Collins Syndrome having Ventricular Septal Defect, Oculofacial Malformations and Oesophageal Atresia: A Case Report |
| title_short | Airway Challenges in a Child with Treacher Collins Syndrome having Ventricular Septal Defect, Oculofacial Malformations and Oesophageal Atresia: A Case Report |
| title_sort | airway challenges in a child with treacher collins syndrome having ventricular septal defect oculofacial malformations and oesophageal atresia a case report |
| topic | airway obstruction congenital anomalies developmental disorders oesophageal dilatation |
| url | https://www.jcdr.net/articles/PDF/19264/69524_CE[Ra1]_F(IS)_QC(KK_IS)_PF1(RI_DK_OM)_PFA_NC(RI_KM)_PN(KM).pdf |
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