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Radial Ray Malformation
Janice L. B. Byrne, MD
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KEY FACTS

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Clinical Issues

          TERMINOLOGY

          • Synonyms

            • Radial ray hypoplasia/aplasia
          • Definitions

            • Spectrum of anomalies including absence or hypoplasia of any of following
              • Radius
              • Radial carpal bones
              • Thumb

          IMAGING

          • General Features

            • Ultrasonographic Findings

              • Imaging Recommendations

                DIFFERENTIAL DIAGNOSIS

                  PATHOLOGY

                  • General Features

                    CLINICAL ISSUES

                    • Presentation

                      • Demographics

                        • Natural History & Prognosis

                          • Treatment

                            DIAGNOSTIC CHECKLIST

                            • Image Interpretation Pearls

                              Selected References

                              1. Al-Qattan MM: Fanconi anemia with concurrent thumb polydactyly and dorsal dimelia: a case report with discussion of embryology. Ann Plast Surg. 70(1):116-8, 2013
                              2. Al-Qattan MM: The ubiquitin/SUMO pathway and radial ray deficiency syndromes. Ann Plast Surg. 70(2):240-5, 2013
                              3. Bottillo I et al: Prenatal diagnosis and post-mortem examination in a fetus with thrombocytopenia-absent radius (TAR) syndrome due to compound heterozygosity for a 1q21.1 microdeletion and a RBM8A hypomorphic allele: a case report. BMC Res Notes. 6:376, 2013
                              4. Pakkasjärvi N et al: Characteristics and associated anomalies in radial ray deficiencies in Finland--a population-based study. Am J Med Genet A. 161A(2):261-7, 2013
                              5. Stoll C et al: Associated malformations among infants with radial ray deficiency. Genet Couns. 24(2):223-34, 2013
                              6. Al-Qattan MM et al: A novel mutation in the SHH long-range regulator (ZRS) is associated with preaxial polydactyly, triphalangeal thumb, and severe radial ray deficiency. Am J Med Genet A. 158A(10):2610-5, 2012
                              7. Kennelly MM et al: A clinical algorithm of prenatal diagnosis of Radial Ray Defects with two and three dimensional ultrasound. Prenat Diagn. 27(8):730-7, 2007
                              8. Klopocki E et al: Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome. Am J Hum Genet. 80(2):232-40, 2007
                              9. De Kerviler E et al: The clinical and radiological features of Fanconi's anaemia. Clin Radiol. 55(5):340-5, 2000
                              Related Anatomy
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                              Related Differential Diagnoses
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                              References
                              Tables

                              Tables

                              KEY FACTS

                              • Terminology

                                • Imaging

                                  • Top Differential Diagnoses

                                    • Clinical Issues

                                      TERMINOLOGY

                                      • Synonyms

                                        • Radial ray hypoplasia/aplasia
                                      • Definitions

                                        • Spectrum of anomalies including absence or hypoplasia of any of following
                                          • Radius
                                          • Radial carpal bones
                                          • Thumb

                                      IMAGING

                                      • General Features

                                        • Ultrasonographic Findings

                                          • Imaging Recommendations

                                            DIFFERENTIAL DIAGNOSIS

                                              PATHOLOGY

                                              • General Features

                                                CLINICAL ISSUES

                                                • Presentation

                                                  • Demographics

                                                    • Natural History & Prognosis

                                                      • Treatment

                                                        DIAGNOSTIC CHECKLIST

                                                        • Image Interpretation Pearls

                                                          Selected References

                                                          1. Al-Qattan MM: Fanconi anemia with concurrent thumb polydactyly and dorsal dimelia: a case report with discussion of embryology. Ann Plast Surg. 70(1):116-8, 2013
                                                          2. Al-Qattan MM: The ubiquitin/SUMO pathway and radial ray deficiency syndromes. Ann Plast Surg. 70(2):240-5, 2013
                                                          3. Bottillo I et al: Prenatal diagnosis and post-mortem examination in a fetus with thrombocytopenia-absent radius (TAR) syndrome due to compound heterozygosity for a 1q21.1 microdeletion and a RBM8A hypomorphic allele: a case report. BMC Res Notes. 6:376, 2013
                                                          4. Pakkasjärvi N et al: Characteristics and associated anomalies in radial ray deficiencies in Finland--a population-based study. Am J Med Genet A. 161A(2):261-7, 2013
                                                          5. Stoll C et al: Associated malformations among infants with radial ray deficiency. Genet Couns. 24(2):223-34, 2013
                                                          6. Al-Qattan MM et al: A novel mutation in the SHH long-range regulator (ZRS) is associated with preaxial polydactyly, triphalangeal thumb, and severe radial ray deficiency. Am J Med Genet A. 158A(10):2610-5, 2012
                                                          7. Kennelly MM et al: A clinical algorithm of prenatal diagnosis of Radial Ray Defects with two and three dimensional ultrasound. Prenat Diagn. 27(8):730-7, 2007
                                                          8. Klopocki E et al: Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome. Am J Hum Genet. 80(2):232-40, 2007
                                                          9. De Kerviler E et al: The clinical and radiological features of Fanconi's anaemia. Clin Radiol. 55(5):340-5, 2000