Genu valgum and arachnodactyly: a rare presentation in Wildervanck syndrome
DOI:
https://doi.org/10.31288/oftalmolzh202534549Keywords:
Genu valgum , arachnodactyly, Wildervanck syndrome, Klippel-Feil abnormalities, Duane retraction syndromeAbstract
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.
References
Williams ML, Dobbs MB. Congenital Foot Deformities. In: Pediatric Lower Limb Deformities: Principles and Techniques of Management. 2024. p. 307-35. https://doi.org/10.1007/978-3-031-55767-5_16
Mir B, Gaber K, Ghali D, Merabia BG, Lin C, Kishta W. Developmental foot deformities in patients with connective tissue disorders. JBJS Rev. 2023;11(2):e22. https://doi.org/10.2106/JBJS.RVW.22.00219
Rampal V, Giuliano F. Forefoot malformations, deformities and other congenital defects in children. Orthop Traumatol Surg Res. 2020;106(1):S115-23. https://doi.org/10.1016/j.otsr.2019.03.021
Butterworth ML, Marcoux JT, editors. The pediatric foot and ankle: diagnosis and management. Cham: Springer Nature; 2019. https://doi.org/10.1007/978-3-030-29788-6
Shah A, Bohn DC, Heest AE, Hu CH. Congenital Upper Limb Differences: Current Concepts over 5 Years of Literature. J Bone Joint Surg Am. 2023;10-2106.
Petit L. Malpositions et malformations congénitales du pied chez le nourrisson. Sages-Femmes. 2024. https://doi.org/10.1016/j.sagf.2024.07.010
Zakrzewski A, Jain VV, Robbins C. Etiology of Lower Limb Deformity. In: Pediatric Lower Limb Deformities: Principles and Techniques of Management. Cham: Springer International Publishing; 2024. p. 3-17. https://doi.org/10.1007/978-3-031-55767-5_1
Shah A, Bohn DC, Van Heest AE, Hu CH. Congenital upper-limb differences: a 6-year literature review. J Bone Joint Surg Am. 2023;105(19):1537-49. https://doi.org/10.2106/JBJS.22.01323
Ramachandran M, Firth GB. Normal Lower Limb Variants in Children. In: Postgraduate Pediatric Orthopedics: The Candidate's Guide to the FRCS (Tr&Orth) Examination. 2024. p. 15-24. https://doi.org/10.1017/9781108989879.003
Tan TSE, Teo ELHJ, Peh WC. Congenital and Developmental Disorders of the Foot and Ankle. In: Imaging of the Foot and Ankle: Techniques and Applications. Cham: Springer International Publishing; 2023. p. 91-131. https://doi.org/10.1007/174_2023_400
Bermudez BE, de Oliveira CM, de Lima Cat MN, Magdalena NI, Celli A. Gastrointestinal disorders in Down syndrome. Am J Med Genet A. 2019;179(8):1426-31. https://doi.org/10.1002/ajmg.a.61258
Ostermaier KK. Down syndrome: Clinical features and diagnosis. UpToDate. Waltham (MA): UpToDate Inc.; 2019 [cited 2018 Feb 4].
Ostermaier KK, Drutz JE. Down syndrome: management. UpToDate. Waltham (MA): UpToDate Inc.; 2021.
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