1. Brachytelephalangic chondrodysplasia punctata with marked cervical stenosis and cord compression: report of two cases
- Author
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Benjamin C. P. Lee, William H. McAlister, and Thomas E. Herman
- Subjects
Male ,musculoskeletal diseases ,Chondrodysplasia Punctata ,Pathology ,medicine.medical_specialty ,Cord ,Foot Deformities, Congenital ,macromolecular substances ,Fingers ,Spinal Stenosis ,Humans ,Medicine ,Abnormalities, Multiple ,Radiology, Nuclear Medicine and imaging ,Chondrodysplasia punctata ,business.industry ,Brachydactyly ,Infant, Newborn ,Binder syndrome ,Anatomy ,musculoskeletal system ,medicine.disease ,Spinal cord ,Osteochondrodysplasia ,Radiography ,Stenosis ,medicine.anatomical_structure ,Pediatrics, Perinatology and Child Health ,Cervical Vertebrae ,business ,Spinal Cord Compression ,Cervical vertebrae - Abstract
Severe cervical spine stenosis with cord compression has not been well documented in brachytelephalangic chondrodysplasia punctata. We report two boys with phenotypic features of brachytelephalangic chondrodysplasia punctata who had severe cervical spine stenosis secondary to dysplastic cervical vertebrae, and discuss the significance of this association and its relation to the phenotypically similar Binder phenotype.
- Published
- 2002
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