Orthopaedic interventions in occipital horn syndrome: a rare case of mutation in ATP7A gene

Egyptian Journal of Medical Human Genetics

卷:23

Aleksander Koch¹  Agata Kaczmarek¹  Maciej Kasprzyk¹  Arthur Szymanski² 

[1] Department of Pediatric Orthopaedics and Traumatology, Wiktor Dega Orthopaedic and Rehabilitation Hospital, Poznań University of Medical Sciences;

[2] Poznań University of Medical Sciences;

关键词: Occipital horn syndrome;    Connective tissue disorder;    Exostosis;    Joint hypermobility;   

DOI  :  10.1186/s43042-022-00235-7

来源: DOAJ

【 摘 要 】

Abstract Background Occipital horn syndrome is a rare, X-linked recessive, connective tissue disorder caused by abnormal copper transporter proteins coded by the ATP7A gene. 32 cases have been reported worldwide to date. Clinically, patients typically present with inguinal hernia, exostosis, cutis laxa, and bladder diverticula. Orthopaedic problems often include exostosis of the elbows, thoracolumbar scoliosis, thoracic cavity deformities, and joint hypermobility due to joint laxity. Case presentation An 18-year-old presented with occipital horn syndrome and was treated for flat-valgus foot and posterior dislocation of the elbow joints. Due to collagen structure abnormalities, vulnerability to joint deformation makes treating patients with occipital horn syndrome challenging as they need complex orthopaedic intervention. Conclusion There is no effective causal therapy for this condition. Surgical procedures can help patients improve their physical condition and maintain adequate joint range of motion.

【 授权许可】

Unknown