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Amelia/Phocomelia
Janice L. B. Byrne, MD
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KEY FACTS

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Pathology

          TERMINOLOGY

          • Definitions

            • Amelia: Absence of 1 or more limbs
            • Micromelia: Shortening of both proximal and distal segments of limb
            • Phocomelia: Shortening of limb with hand/foot arising near trunk
              • Proximal segment often most severely affected
            • Limb reduction defect: Absence of any portion of skeletal structures or soft tissues of limb
              • May be transverse, longitudinal, or intercalary deficiency
            • Hemimelia: Absence of distal limb

          IMAGING

          • Imaging Recommendations

            DIFFERENTIAL DIAGNOSIS

              PATHOLOGY

              • General Features

                CLINICAL ISSUES

                • Presentation

                  • Natural History & Prognosis

                    • Treatment

                      DIAGNOSTIC CHECKLIST

                      • Consider

                        • Image Interpretation Pearls

                          Selected References

                          1. da Costa Almeida CB et al: Report of the phenotype of a patient with roberts syndrome and a rare ESCO2 variant. J Pediatr Genet. 9(1):58-62, 2020
                          2. Schwickert A et al: [Prenatal diagnostics and postnatal complications in a case of extremely rare tetra-amelia.] Z Geburtshilfe Neonatol. ePub, 2020
                          3. Sezer A et al: Hypopigmented patches in Roberts/SC phocomelia syndrome occur via aneuploidy susceptibility. Eur J Med Genet. 62(12):103608, 2019
                          4. Liao YM et al: Routine screening for fetal limb abnormalities in the first trimester. Prenat Diagn. 36(2):117-26, 2016
                          5. Pallavee P et al: Foetal fibular hemimelia with focal femoral deficiency following prenatal misoprostol use: a case report. J Obstet Gynaecol. 36(6):760-1, 2016
                          6. Haro E et al: Sp6 and Sp8 transcription factors control AER formation and dorsal-ventral patterning in limb development. PLoS Genet. 10(8):e1004468, 2014
                          7. Al-Qattan MM: WNT pathways and upper limb anomalies. J Hand Surg Eur Vol. 36(1):9-22, 2011
                          8. Eyaid W et al: A novel homozygous missense mutation (c.610G>A, p.Gly204Ser) in the WNT7A gene causes tetra-amelia in two Saudi families. Am J Med Genet A. 155A(3):599-604, 2011
                          9. Ema M et al: Fetal malformations and early embryonic gene expression response in cynomolgus monkeys maternally exposed to thalidomide. Reprod Toxicol. 29(1):49-56, 2010
                          10. Goh ES et al: The Roberts syndrome/SC phocomelia spectrum--a case report of an adult with review of the literature. Am J Med Genet A. 152A(2):472-8, 2010
                          11. Gordillo M et al: The molecular mechanism underlying Roberts syndrome involves loss of ESCO2 acetyltransferase activity. Hum Mol Genet. 17(14):2172-80, 2008
                          12. Niemann S et al: Homozygous WNT3 mutation causes tetra-amelia in a large consanguineous family. Am J Hum Genet. 74(3):558-63, 2004
                          13. Megier P et al: Three-dimensional ultrasound in the diagnosis of left upper limb amelia and right upper limb deficiency at 10 weeks' gestation. Ultrasound Obstet Gynecol. 20(3):303-4, 2002
                          Related Anatomy
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                          Related Differential Diagnoses
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                          References
                          Tables

                          Tables

                          KEY FACTS

                          • Terminology

                            • Imaging

                              • Top Differential Diagnoses

                                • Pathology

                                  TERMINOLOGY

                                  • Definitions

                                    • Amelia: Absence of 1 or more limbs
                                    • Micromelia: Shortening of both proximal and distal segments of limb
                                    • Phocomelia: Shortening of limb with hand/foot arising near trunk
                                      • Proximal segment often most severely affected
                                    • Limb reduction defect: Absence of any portion of skeletal structures or soft tissues of limb
                                      • May be transverse, longitudinal, or intercalary deficiency
                                    • Hemimelia: Absence of distal limb

                                  IMAGING

                                  • Imaging Recommendations

                                    DIFFERENTIAL DIAGNOSIS

                                      PATHOLOGY

                                      • General Features

                                        CLINICAL ISSUES

                                        • Presentation

                                          • Natural History & Prognosis

                                            • Treatment

                                              DIAGNOSTIC CHECKLIST

                                              • Consider

                                                • Image Interpretation Pearls

                                                  Selected References

                                                  1. da Costa Almeida CB et al: Report of the phenotype of a patient with roberts syndrome and a rare ESCO2 variant. J Pediatr Genet. 9(1):58-62, 2020
                                                  2. Schwickert A et al: [Prenatal diagnostics and postnatal complications in a case of extremely rare tetra-amelia.] Z Geburtshilfe Neonatol. ePub, 2020
                                                  3. Sezer A et al: Hypopigmented patches in Roberts/SC phocomelia syndrome occur via aneuploidy susceptibility. Eur J Med Genet. 62(12):103608, 2019
                                                  4. Liao YM et al: Routine screening for fetal limb abnormalities in the first trimester. Prenat Diagn. 36(2):117-26, 2016
                                                  5. Pallavee P et al: Foetal fibular hemimelia with focal femoral deficiency following prenatal misoprostol use: a case report. J Obstet Gynaecol. 36(6):760-1, 2016
                                                  6. Haro E et al: Sp6 and Sp8 transcription factors control AER formation and dorsal-ventral patterning in limb development. PLoS Genet. 10(8):e1004468, 2014
                                                  7. Al-Qattan MM: WNT pathways and upper limb anomalies. J Hand Surg Eur Vol. 36(1):9-22, 2011
                                                  8. Eyaid W et al: A novel homozygous missense mutation (c.610G>A, p.Gly204Ser) in the WNT7A gene causes tetra-amelia in two Saudi families. Am J Med Genet A. 155A(3):599-604, 2011
                                                  9. Ema M et al: Fetal malformations and early embryonic gene expression response in cynomolgus monkeys maternally exposed to thalidomide. Reprod Toxicol. 29(1):49-56, 2010
                                                  10. Goh ES et al: The Roberts syndrome/SC phocomelia spectrum--a case report of an adult with review of the literature. Am J Med Genet A. 152A(2):472-8, 2010
                                                  11. Gordillo M et al: The molecular mechanism underlying Roberts syndrome involves loss of ESCO2 acetyltransferase activity. Hum Mol Genet. 17(14):2172-80, 2008
                                                  12. Niemann S et al: Homozygous WNT3 mutation causes tetra-amelia in a large consanguineous family. Am J Hum Genet. 74(3):558-63, 2004
                                                  13. Megier P et al: Three-dimensional ultrasound in the diagnosis of left upper limb amelia and right upper limb deficiency at 10 weeks' gestation. Ultrasound Obstet Gynecol. 20(3):303-4, 2002