Arthrogryposis as a presenting feature of nail-patella syndrome: a lesser-known feature and the perils of negative whole-genome sequencing

MeSH terms

• Arthrogryposis / diagnosis*
• Arthrogryposis / genetics*
• Biopsy
• Child, Preschool
• Facies
• Genetic Association Studies* / methods
• Genetic Predisposition to Disease*
• Genetic Testing
• Humans
• Magnetic Resonance Imaging
• Male
• Muscle, Skeletal / pathology
• Mutation
• N-Acetylgalactosaminyltransferases / genetics
• Nail-Patella Syndrome / diagnosis*
• Nail-Patella Syndrome / genetics*
• Phenotype
• Radiography
• Whole Genome Sequencing