Cri du Chat Syndrome and congenital dislocation of the hips and knees: case report
Introduction: Cri Du Chat Syndrome (CdCS) is an autosomal genetic disorder involving the complete or partial deletion of the short arm of chromosome 5 (5p). The size of the CdCS deletion ranges from approximately 10-45 Mb. Clinical case: Female patient, one year and three months old, prese...
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| Autores principales: | , , |
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| Formato: | Artículo revista |
| Lenguaje: | Inglés |
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Universidad Nacional Córdoba. Facultad de Ciencias Médicas. Secretaria de Ciencia y Tecnología
2025
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| Materias: | |
| Acceso en línea: | https://revistas.unc.edu.ar/index.php/med/article/view/45341 |
| Aporte de: |
| Sumario: | Introduction: Cri Du Chat Syndrome (CdCS) is an autosomal genetic disorder involving the complete or partial deletion of the short arm of chromosome 5 (5p). The size of the CdCS deletion ranges from approximately 10-45 Mb.
Clinical case: Female patient, one year and three months old, presents hyperextension of the knees. On physical examination, the patient presents bilateral cleft palate, absence of soft palate, cleft lip and tracheostomy, positive Hart sign, negative Peter Bade sign and fixed retrocurved knees with limited range of motion. Radiographs reveal bilateral hip dislocation and knee dislocation. Karyotype analysis confirms the diagnosis of CdCS.
Results: Surgery was performed to laterally release the knee joint capsule, lengthen the quadriceps tendon, capsuloplasty and closed reduction of the knee joint, followed by application of a co-pediatric plaster with knee flexion. After two months in a cast, physiotherapy was started. Approximately three months after surgery, the patient presented a healed surgical incision, full knee extension and almost complete flexion (100° flexion), in addition to a negative Lachmann test.
Conclusion: The presence of multiple congenital anomalies constitutes an exceptionally unique clinical picture. It is crucial to emphasize that congenital dislocation of the hips and knees in this patient is particularly rare and has not been described in the medical literature among CdCS patients. |
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