Moebius Syndrome Misdiagnosed as Duane Retraction Syndrome: A Case Report
Moebius syndrome and Duane Retraction Syndrome (DRS) are Congenital Cranial Dysinnervation Disorders (CCDDs) characterised as congenital, non progressive groups of diseases caused by abnormal development of cranial nerve nuclei or their axonal connections. Due to their overlapping features, distingu...
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JCDR Research and Publications Private Limited
2024-11-01
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| Series: | Journal of Clinical and Diagnostic Research |
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| Online Access: | https://www.jcdr.net/articles/PDF/20319/73975_CE[Ra1]_F(SHU)_QC(AN_IS)_PF1(AG_SHU)_PFA_NC(IS)_PN(KM).pdf |
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| author | Harnoor Kaur Neha K Sethi Harsimarpreet Singh |
| author_facet | Harnoor Kaur Neha K Sethi Harsimarpreet Singh |
| author_sort | Harnoor Kaur |
| collection | DOAJ |
| description | Moebius syndrome and Duane Retraction Syndrome (DRS) are Congenital Cranial Dysinnervation Disorders (CCDDs) characterised as congenital, non progressive groups of diseases caused by abnormal development of cranial nerve nuclei or their axonal connections. Due to their overlapping features, distinguishing between these disorders can be challenging, leading to potential diagnostic oversights. This is a case report of a 10-year-old female with Moebius syndrome misdiagnosed as DRS. She had 6th and 7th nerve palsies with exposure keratopathy. Probably the cause for misdiagnosis was the presence of an abduction deficit-a characteristic shared by both disorders. Additionally, it is crucial to examine the facial nerve, as it is exclusively affected in Moebius syndrome. DRS is significantly more common than Moebius syndrome; the rarity of Moebius syndrome might contribute to the misdiagnosis. Conducting a thorough examination is essential for differentiating between these conditions, thereby facilitating comprehensive management. |
| format | Article |
| id | doaj-art-82a0ab8ef3914eaeb6de49679d6c5f8f |
| institution | DOAJ |
| issn | 2249-782X 0973-709X |
| language | English |
| publishDate | 2024-11-01 |
| publisher | JCDR Research and Publications Private Limited |
| record_format | Article |
| series | Journal of Clinical and Diagnostic Research |
| spelling | doaj-art-82a0ab8ef3914eaeb6de49679d6c5f8f2025-08-20T02:50:55ZengJCDR Research and Publications Private LimitedJournal of Clinical and Diagnostic Research2249-782X0973-709X2024-11-011811040510.7860/JCDR/2024/73975.20319Moebius Syndrome Misdiagnosed as Duane Retraction Syndrome: A Case ReportHarnoor Kaur0Neha K Sethi1Harsimarpreet Singh2Junior Resident, Department of Ophthalmology, Guru Gobind Singh Medical College and Hospital, Faridkot, Punjab, India. Associate Professor, Department of Ophthalmology, Guru Gobind Singh Medical College and Hospital, Faridkot, Punjab, India.Junior Resident, Department of Ophthalmology, Guru Gobind Singh Medical College and Hospital, Faridkot, Punjab, India.Moebius syndrome and Duane Retraction Syndrome (DRS) are Congenital Cranial Dysinnervation Disorders (CCDDs) characterised as congenital, non progressive groups of diseases caused by abnormal development of cranial nerve nuclei or their axonal connections. Due to their overlapping features, distinguishing between these disorders can be challenging, leading to potential diagnostic oversights. This is a case report of a 10-year-old female with Moebius syndrome misdiagnosed as DRS. She had 6th and 7th nerve palsies with exposure keratopathy. Probably the cause for misdiagnosis was the presence of an abduction deficit-a characteristic shared by both disorders. Additionally, it is crucial to examine the facial nerve, as it is exclusively affected in Moebius syndrome. DRS is significantly more common than Moebius syndrome; the rarity of Moebius syndrome might contribute to the misdiagnosis. Conducting a thorough examination is essential for differentiating between these conditions, thereby facilitating comprehensive management.https://www.jcdr.net/articles/PDF/20319/73975_CE[Ra1]_F(SHU)_QC(AN_IS)_PF1(AG_SHU)_PFA_NC(IS)_PN(KM).pdfcongenital cranial dysinnervation disorderscongenital facial palsyexposure keratopathystrabismus |
| spellingShingle | Harnoor Kaur Neha K Sethi Harsimarpreet Singh Moebius Syndrome Misdiagnosed as Duane Retraction Syndrome: A Case Report Journal of Clinical and Diagnostic Research congenital cranial dysinnervation disorders congenital facial palsy exposure keratopathy strabismus |
| title | Moebius Syndrome Misdiagnosed as Duane Retraction Syndrome: A Case Report |
| title_full | Moebius Syndrome Misdiagnosed as Duane Retraction Syndrome: A Case Report |
| title_fullStr | Moebius Syndrome Misdiagnosed as Duane Retraction Syndrome: A Case Report |
| title_full_unstemmed | Moebius Syndrome Misdiagnosed as Duane Retraction Syndrome: A Case Report |
| title_short | Moebius Syndrome Misdiagnosed as Duane Retraction Syndrome: A Case Report |
| title_sort | moebius syndrome misdiagnosed as duane retraction syndrome a case report |
| topic | congenital cranial dysinnervation disorders congenital facial palsy exposure keratopathy strabismus |
| url | https://www.jcdr.net/articles/PDF/20319/73975_CE[Ra1]_F(SHU)_QC(AN_IS)_PF1(AG_SHU)_PFA_NC(IS)_PN(KM).pdf |
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