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[Klippel-Feil syndrome. Three-dimensional tomographic images].
E Austrich Senosian1, J F Téllez-Zenteno, G García-Ramos
1Departamento de Neurología y Psiquiatría, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Vasco de Quiroga 15, Colonia Sección XVI, 14000 Tlalpan, México, D. F.
Gaceta Medica De Mexico
|January 5, 2002
Summary
Klippel-Feil syndrome involves congenital vertebral fusion, often presenting with a short neck and limited neck motion. This case highlights a 9-year-old boy with multiple cervical vertebral fusions visualized via CT scans.
Area of Science:
- Orthopedics
- Genetics
- Developmental Biology
Background:
- Klippel-Feil syndrome (KPS) is a congenital disorder characterized by the fusion of cervical vertebrae.
- It results from abnormal segmentation during embryonic development, leading to a shortened neck, limited neck mobility, and a low posterior hairline.
Observation:
- A 9-year-old male patient presented with Klippel-Feil syndrome.
- Computed tomography (CT) scans revealed multiple fusions within the cervical vertebrae.
Findings:
- The patient exhibited multiple cervical vertebral fusions, a key diagnostic feature of KPS.
- While the classic triad of KPS was not fully present, the imaging confirmed significant vertebral anomalies.
Implications:
- This case underscores the importance of advanced imaging like CT for diagnosing KPS and associated anomalies.
- Understanding the spectrum of KPS presentations aids in better patient management and genetic counseling.
- Detailed imaging provides crucial data for research into KPS etiology and treatment strategies.