Genu valgum and arachnodactyly: a rare presentation in Wildervanck syndrome
Background: Cervico-Oculo-acoustic syndrome, also known as Wildervanck syndrome, is a rare inherited disorder that causes congenital hearing loss, Klippel-Feil abnormalities, and Duane retraction syndrome. Females are more likely to have Wildervanck syndrome and associated skeletal and cranial anoma...
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| Language: | English |
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Ukrainian Society of Ophthalmologists
2025-06-01
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| Series: | Journal of Ophthalmology |
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| Online Access: | https://ua.ozhurnal.com/index.php/files/article/view/239 |
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| author | Dipti Shikha Kashyap E Mohit Kumar |
| author_facet | Dipti Shikha Kashyap E Mohit Kumar |
| author_sort | Dipti Shikha Kashyap E |
| collection | DOAJ |
| description | Background: Cervico-Oculo-acoustic syndrome, also known as Wildervanck syndrome, is a rare inherited disorder that causes congenital hearing loss, Klippel-Feil abnormalities, and Duane retraction syndrome. Females are more likely to have Wildervanck syndrome and associated skeletal and cranial anomalies. This illness's distinctive symptoms must be accurately documented to advance clinical knowledge and therapeutic strategies.
Case Presentation: An eleven-year-old girl from a blood line had restricted neck movement and left eye abduction since birth. She had genu valgum, arachnodactyly, micrognathia, and other notable cranial anomalies.
Interventions: Supportive treatment included neck mobility and scoliosis therapy, hearing aids for her conductive hearing loss, and genu valgum assessments. Genetic consultation assisted with family planning and inheritance patterns.
Conclusion: As this example shows a rare phenotype, patients with Wildervanck syndrome may have more symptoms than previously considered. This patient’s limb malformations underscore the need for thorough clinical examination and genetic research. This paper provides a good starting point for comprehensive Wildervanck syndrome diagnosis, treatment, and genetic counseling. |
| format | Article |
| id | doaj-art-aa4eb714a9a14e26b44bb94402bc945e |
| institution | Kabale University |
| issn | 2412-8740 |
| language | English |
| publishDate | 2025-06-01 |
| publisher | Ukrainian Society of Ophthalmologists |
| record_format | Article |
| series | Journal of Ophthalmology |
| spelling | doaj-art-aa4eb714a9a14e26b44bb94402bc945e2025-08-20T03:31:33ZengUkrainian Society of OphthalmologistsJournal of Ophthalmology2412-87402025-06-0134549https://doi.org/10.31288/oftalmolzh202534549Genu valgum and arachnodactyly: a rare presentation in Wildervanck syndromeDipti Shikha Kashyap E0Mohit Kumar1SIC Medical College and Hospital FaridabadSIC Medical College and Hospital FaridabadBackground: Cervico-Oculo-acoustic syndrome, also known as Wildervanck syndrome, is a rare inherited disorder that causes congenital hearing loss, Klippel-Feil abnormalities, and Duane retraction syndrome. Females are more likely to have Wildervanck syndrome and associated skeletal and cranial anomalies. This illness's distinctive symptoms must be accurately documented to advance clinical knowledge and therapeutic strategies. Case Presentation: An eleven-year-old girl from a blood line had restricted neck movement and left eye abduction since birth. She had genu valgum, arachnodactyly, micrognathia, and other notable cranial anomalies. Interventions: Supportive treatment included neck mobility and scoliosis therapy, hearing aids for her conductive hearing loss, and genu valgum assessments. Genetic consultation assisted with family planning and inheritance patterns. Conclusion: As this example shows a rare phenotype, patients with Wildervanck syndrome may have more symptoms than previously considered. This patient’s limb malformations underscore the need for thorough clinical examination and genetic research. This paper provides a good starting point for comprehensive Wildervanck syndrome diagnosis, treatment, and genetic counseling.https://ua.ozhurnal.com/index.php/files/article/view/239genu valgumarachnodactylywildervanck syndromeklippel-feil abnormalitiesduane retraction syndrome |
| spellingShingle | Dipti Shikha Kashyap E Mohit Kumar Genu valgum and arachnodactyly: a rare presentation in Wildervanck syndrome Journal of Ophthalmology genu valgum arachnodactyly wildervanck syndrome klippel-feil abnormalities duane retraction syndrome |
| title | Genu valgum and arachnodactyly: a rare presentation in Wildervanck syndrome |
| title_full | Genu valgum and arachnodactyly: a rare presentation in Wildervanck syndrome |
| title_fullStr | Genu valgum and arachnodactyly: a rare presentation in Wildervanck syndrome |
| title_full_unstemmed | Genu valgum and arachnodactyly: a rare presentation in Wildervanck syndrome |
| title_short | Genu valgum and arachnodactyly: a rare presentation in Wildervanck syndrome |
| title_sort | genu valgum and arachnodactyly a rare presentation in wildervanck syndrome |
| topic | genu valgum arachnodactyly wildervanck syndrome klippel-feil abnormalities duane retraction syndrome |
| url | https://ua.ozhurnal.com/index.php/files/article/view/239 |
| work_keys_str_mv | AT diptishikhakashyape genuvalgumandarachnodactylyararepresentationinwildervancksyndrome AT mohitkumar genuvalgumandarachnodactylyararepresentationinwildervancksyndrome |