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Wolf-Hirschorn Syndrome
Brian L. Shaffer, MD
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KEY FACTS

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Pathology

          • Diagnostic Checklist

            • Scanning Tips

              TERMINOLOGY

              • Abbreviations

                • Wolf-Hirschhorn syndrome (WHS)
              • Synonyms

                • 4p- syndrome, monosomy 4p, deletion 4p
              • Definitions

                • Chromosome 4p deletion with classic features
                  • Fetal growth restriction (FGR) 
                  • Dysmorphic craniofacial features
                  • Seizures and intellectual disability

              IMAGING

              • General Features

                • Ultrasonographic Findings

                  • Imaging Recommendations

                    DIFFERENTIAL DIAGNOSIS

                      PATHOLOGY

                      • General Features

                        CLINICAL ISSUES

                        • Presentation

                          • Demographics

                            Selected References

                            1. Lin MF et al: Prenatal diagnosis of Wolf-Hirschhorn syndrome at the first trimester using chromosomal microarray analysis. J Obstet Gynaecol. 39(2):268-70, 2019
                            2. Xing Y et al: Prenatal diagnosis of Wolf-Hirschhorn syndrome: from ultrasound findings, diagnostic technology to genetic counseling. Arch Gynecol Obstet. 298(2):289-95, 2018
                            3. Battaglia A et al: Wolf-Hirschhorn syndrome: a review and update. Am J Med Genet C Semin Med Genet. 169(3):216-23, 2015
                            4. Debost-Legrand A et al: Prenatal ultrasound findings observed in the Wolf-Hirschhorn syndrome: data from the registry of congenital malformations in Auvergne. Birth Defects Res A Clin Mol Teratol. 97(12):806-11, 2013
                            5. Ikonomou T et al: Prenatal diagnosis of Wolf-Hirschhorn syndrome: ultrasonography and genetics. J Matern Fetal Neonatal Med. 26(9):941-2, 2013
                            6. von Elten K et al: A case of Wolf-Hirschhorn syndrome and hypoplastic left heart syndrome. Pediatr Cardiol. 34(5):1244-6, 2013
                            7. Sifakis S et al: Prenatal diagnosis of Wolf-Hirschhorn syndrome confirmed by comparative genomic hybridization array: report of two cases and review of the literature. Mol Cytogenet. 5:12, 2012
                            8. Battaglia A et al: Wolf-Hirschhorn syndrome – retired chapter, for historical reference only. GeneReviews® [Internet], 1993
                            Related Anatomy
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                            Related Differential Diagnoses
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                            References
                            Tables

                            Tables

                            KEY FACTS

                            • Terminology

                              • Imaging

                                • Top Differential Diagnoses

                                  • Pathology

                                    • Diagnostic Checklist

                                      • Scanning Tips

                                        TERMINOLOGY

                                        • Abbreviations

                                          • Wolf-Hirschhorn syndrome (WHS)
                                        • Synonyms

                                          • 4p- syndrome, monosomy 4p, deletion 4p
                                        • Definitions

                                          • Chromosome 4p deletion with classic features
                                            • Fetal growth restriction (FGR) 
                                            • Dysmorphic craniofacial features
                                            • Seizures and intellectual disability

                                        IMAGING

                                        • General Features

                                          • Ultrasonographic Findings

                                            • Imaging Recommendations

                                              DIFFERENTIAL DIAGNOSIS

                                                PATHOLOGY

                                                • General Features

                                                  CLINICAL ISSUES

                                                  • Presentation

                                                    • Demographics

                                                      Selected References

                                                      1. Lin MF et al: Prenatal diagnosis of Wolf-Hirschhorn syndrome at the first trimester using chromosomal microarray analysis. J Obstet Gynaecol. 39(2):268-70, 2019
                                                      2. Xing Y et al: Prenatal diagnosis of Wolf-Hirschhorn syndrome: from ultrasound findings, diagnostic technology to genetic counseling. Arch Gynecol Obstet. 298(2):289-95, 2018
                                                      3. Battaglia A et al: Wolf-Hirschhorn syndrome: a review and update. Am J Med Genet C Semin Med Genet. 169(3):216-23, 2015
                                                      4. Debost-Legrand A et al: Prenatal ultrasound findings observed in the Wolf-Hirschhorn syndrome: data from the registry of congenital malformations in Auvergne. Birth Defects Res A Clin Mol Teratol. 97(12):806-11, 2013
                                                      5. Ikonomou T et al: Prenatal diagnosis of Wolf-Hirschhorn syndrome: ultrasonography and genetics. J Matern Fetal Neonatal Med. 26(9):941-2, 2013
                                                      6. von Elten K et al: A case of Wolf-Hirschhorn syndrome and hypoplastic left heart syndrome. Pediatr Cardiol. 34(5):1244-6, 2013
                                                      7. Sifakis S et al: Prenatal diagnosis of Wolf-Hirschhorn syndrome confirmed by comparative genomic hybridization array: report of two cases and review of the literature. Mol Cytogenet. 5:12, 2012
                                                      8. Battaglia A et al: Wolf-Hirschhorn syndrome – retired chapter, for historical reference only. GeneReviews® [Internet], 1993