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Greenberg Dysplasia
Brian L. Shaffer, MD
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KEY FACTS

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Pathology

          • Clinical Issues

            • Diagnostic Checklist

              • Scanning Tips

                TERMINOLOGY

                • Abbreviations

                  • Greenberg skeletal dysplasia (GSD)
                • Synonyms

                  • Hydrops, ectopic calcification, moth-eaten (HEM) bones skeletal dysplasia
                • Definitions

                  • Life-limiting osteochondrodysplasia
                    • Characterized by micromelia, hydrops, and moth-eaten appearance of bones with ectopic calcification

                IMAGING

                • General Features

                  • Ultrasonographic Findings

                    • Radiographic Findings

                      • Imaging Recommendations

                        DIFFERENTIAL DIAGNOSIS

                          PATHOLOGY

                          • General Features

                            CLINICAL ISSUES

                            • Presentation

                              • Demographics

                                • Natural History & Prognosis

                                  • Treatment

                                    DIAGNOSTIC CHECKLIST

                                    • Consider

                                      • Image Interpretation Pearls

                                        Selected References

                                        1. Kumble S et al: Chondrodysplasia punctata 2, X-linked. In: Adam MP et al: GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2020. Available from: https://www.ncbi.nlm.nih.gov/books/NBK55062. Published 2011. Updated Jan 9, 2020. Accessed Feb 26, 2020.
                                        2. Giorgio E et al: A novel case of Greenberg dysplasia and genotype-phenotype correlation analysis for LBR pathogenic variants: an instructive example of one gene-multiple phenotypes. Am J Med Genet A. 179(2):306-11, 2019
                                        3. Rossi M et al: Radiographic features of the skeleton in disorders of post-squalene cholesterol biosynthesis. Pediatr Radiol. 45(7):965-76, 2015
                                        4. Lubala TK et al: Greenberg skeletal dysplasia: first reported case in the Democratic Republic of Congo. Pan Afr Med J. 14:55, 2013
                                        5. Offiah AC et al: Greenberg dysplasia (HEM) and lethal X linked dominant Conradi-Hünermann chondrodysplasia punctata (CDPX2): presentation of two cases with overlapping phenotype. J Med Genet. 40(12):e129, 2003
                                        6. Horn LC et al: Greenberg dysplasia: first reported case with additional non-skeletal malformations and without consanguinity. Prenat Diagn. 20(12):1008-11, 2000
                                        7. Chitayat D et al: Hydrops-ectopic calcification-moth-eaten skeletal dysplasia (Greenberg dysplasia): prenatal diagnosis and further delineation of a rare genetic disorder. Am J Med Genet. 47(2):272-7, 1993
                                        8. Greenberg CR et al: A new autosomal recessive lethal chondrodystrophy with congenital hydrops. Am J Med Genet. 29(3):623-32, 1988
                                        Related Anatomy
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                                        Related Differential Diagnoses
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                                        References
                                        Tables

                                        Tables

                                        KEY FACTS

                                        • Terminology

                                          • Imaging

                                            • Top Differential Diagnoses

                                              • Pathology

                                                • Clinical Issues

                                                  • Diagnostic Checklist

                                                    • Scanning Tips

                                                      TERMINOLOGY

                                                      • Abbreviations

                                                        • Greenberg skeletal dysplasia (GSD)
                                                      • Synonyms

                                                        • Hydrops, ectopic calcification, moth-eaten (HEM) bones skeletal dysplasia
                                                      • Definitions

                                                        • Life-limiting osteochondrodysplasia
                                                          • Characterized by micromelia, hydrops, and moth-eaten appearance of bones with ectopic calcification

                                                      IMAGING

                                                      • General Features

                                                        • Ultrasonographic Findings

                                                          • Radiographic Findings

                                                            • Imaging Recommendations

                                                              DIFFERENTIAL DIAGNOSIS

                                                                PATHOLOGY

                                                                • General Features

                                                                  CLINICAL ISSUES

                                                                  • Presentation

                                                                    • Demographics

                                                                      • Natural History & Prognosis

                                                                        • Treatment

                                                                          DIAGNOSTIC CHECKLIST

                                                                          • Consider

                                                                            • Image Interpretation Pearls

                                                                              Selected References

                                                                              1. Kumble S et al: Chondrodysplasia punctata 2, X-linked. In: Adam MP et al: GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2020. Available from: https://www.ncbi.nlm.nih.gov/books/NBK55062. Published 2011. Updated Jan 9, 2020. Accessed Feb 26, 2020.
                                                                              2. Giorgio E et al: A novel case of Greenberg dysplasia and genotype-phenotype correlation analysis for LBR pathogenic variants: an instructive example of one gene-multiple phenotypes. Am J Med Genet A. 179(2):306-11, 2019
                                                                              3. Rossi M et al: Radiographic features of the skeleton in disorders of post-squalene cholesterol biosynthesis. Pediatr Radiol. 45(7):965-76, 2015
                                                                              4. Lubala TK et al: Greenberg skeletal dysplasia: first reported case in the Democratic Republic of Congo. Pan Afr Med J. 14:55, 2013
                                                                              5. Offiah AC et al: Greenberg dysplasia (HEM) and lethal X linked dominant Conradi-Hünermann chondrodysplasia punctata (CDPX2): presentation of two cases with overlapping phenotype. J Med Genet. 40(12):e129, 2003
                                                                              6. Horn LC et al: Greenberg dysplasia: first reported case with additional non-skeletal malformations and without consanguinity. Prenat Diagn. 20(12):1008-11, 2000
                                                                              7. Chitayat D et al: Hydrops-ectopic calcification-moth-eaten skeletal dysplasia (Greenberg dysplasia): prenatal diagnosis and further delineation of a rare genetic disorder. Am J Med Genet. 47(2):272-7, 1993
                                                                              8. Greenberg CR et al: A new autosomal recessive lethal chondrodystrophy with congenital hydrops. Am J Med Genet. 29(3):623-32, 1988