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Neu-Laxova Syndrome
Anne Kennedy, MD
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KEY FACTS

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Pathology

          • Clinical Issues

            • Diagnostic Checklist

              TERMINOLOGY

              • Definitions

                • Extremely rare, lethal congenital disorder with fetal growth restriction (FGR), skin thickening/edema, microcephaly, abnormal facial findings, and limb abnormalities

              IMAGING

              • Ultrasonographic Findings

                DIFFERENTIAL DIAGNOSIS

                  PATHOLOGY

                  • General Features

                    • Gross Pathologic & Surgical Features

                      • Microscopic Features

                        CLINICAL ISSUES

                        • Presentation

                          • Demographics

                            • Natural History & Prognosis

                              • Treatment

                                DIAGNOSTIC CHECKLIST

                                • Image Interpretation Pearls

                                  • Reporting Tips

                                    Selected References

                                    1. Cavole TR et al: Clinical, molecular, and pathological findings in a Neu-Laxova syndrome stillborn: a Brazilian case report. Am J Med Genet A. 182(6):1473-6, 2020
                                    2. Bourque DK et al: Neu-Laxova syndrome presenting prenatally with increased nuchal translucency and cystic hygroma: the utility of exome sequencing in deciphering the diagnosis. Am J Med Genet A. 179(5):813-16, 2019
                                    3. Dwivedi T et al: Neu Laxova syndrome. Indian J Pathol Microbiol. 62(1):149-52, 2019
                                    4. Ni C et al: Novel and recurrent PHGDH and PSAT1 mutations in Chinese patients with Neu-Laxova syndrome. Eur J Dermatol. 29(6):641-6, 2019
                                    5. Wood AM et al: Prenatal genetic diagnosis of Neu-Laxova syndrome. J Obstet Gynaecol. 38(3):413-14, 2018
                                    6. Mattos EP et al: Identification of a premature stop codon mutation in the PHGDH gene in severe Neu-Laxova syndrome-evidence for phenotypic variability. Am J Med Genet A. 167(6):1323-9, 2015
                                    7. Acuna-Hidalgo R et al: Neu-Laxova syndrome is a heterogeneous metabolic disorder caused by defects in enzymes of the L-serine biosynthesis pathway. Am J Hum Genet. 95(3):285-93, 2014
                                    8. Roy S et al: Neu-Laxova syndrome: a case report. Mymensingh Med J. 23(1):167-9, 2014
                                    9. Shaheen R et al: Neu-Laxova syndrome, an inborn error of serine metabolism, is caused by mutations in PHGDH. Am J Hum Genet. 94(6):898-904, 2014
                                    10. Badakali M et al: Rare manifestations of Neu-Laxova syndrome. Fetal Pediatr Pathol. 31(1):1-5, 2012
                                    11. Dhillon P et al: Neu-Laxova syndrome: a prenatal diagnosis. J Miss State Med Assoc. 52(10):307-9, 2011
                                    12. Coto-Puckett WL et al: A spectrum of phenotypical expression OF Neu-Laxova syndrome: Three case reports and a review of the literature. Fetal Pediatr Pathol. 29(2):108-19, 2010
                                    13. Manar AL et al: Neu-Laxova syndrome: a new patient with detailed antenatal and post-natal findings. Am J Med Genet A. 152A(12):3193-6, 2010
                                    14. Tarim E et al: Prenatal diagnosis and postmortem findings of Neu-laxova syndrome. J Turk Ger Gynecol Assoc. 11(4):225-7, 2010
                                    15. Kahyaoglu S et al: Neu-Laxova syndrome, grossly appearing normal on 20 weeks ultrasonographic scan, that manifested late in pregnancy: a case report. Arch Gynecol Obstet. 276(4):367-70, 2007
                                    16. Martín A et al: A rare cause of polyhydramnios: Neu-Laxova syndrome. J Matern Fetal Neonatal Med. 19(7):439-42, 2006
                                    17. Ugras M et al: Neu-Laxova syndrome: a case report and review of the literature. J Eur Acad Dermatol Venereol. 20(9):1126-8, 2006
                                    18. Mihci E et al: Evaluation of a fetus with Neu-Laxova syndrome through prenatal, clinical, and pathological findings. Fetal Diagn Ther. 20(3):167-70, 2005
                                    19. Manning MA et al: Neu-Laxova syndrome: detailed prenatal diagnostic and post-mortem findings and literature review. Am J Med Genet A. 125A(3):240-9, 2004
                                    20. Shivarajan MA et al: Second trimester diagnosis of Neu Laxova syndrome. Prenat Diagn. 23(1):21-4, 2003
                                    21. Driggers RW et al: Early second trimester prenatal diagnosis of Neu-Laxova syndrome. Prenat Diagn. 22(2):118-20, 2002
                                    22. Durr-e-Sabih et al: Prenatal sonographic diagnosis of Neu-Laxova syndrome. J Clin Ultrasound. 29(9):531-4, 2001
                                    23. Rode ME et al: Early ultrasound diagnosis of Neu-Laxova syndrome. Prenat Diagn. 21(7):575-80, 2001
                                    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

                                                TERMINOLOGY

                                                • Definitions

                                                  • Extremely rare, lethal congenital disorder with fetal growth restriction (FGR), skin thickening/edema, microcephaly, abnormal facial findings, and limb abnormalities

                                                IMAGING

                                                • Ultrasonographic Findings

                                                  DIFFERENTIAL DIAGNOSIS

                                                    PATHOLOGY

                                                    • General Features

                                                      • Gross Pathologic & Surgical Features

                                                        • Microscopic Features

                                                          CLINICAL ISSUES

                                                          • Presentation

                                                            • Demographics

                                                              • Natural History & Prognosis

                                                                • Treatment

                                                                  DIAGNOSTIC CHECKLIST

                                                                  • Image Interpretation Pearls

                                                                    • Reporting Tips

                                                                      Selected References

                                                                      1. Cavole TR et al: Clinical, molecular, and pathological findings in a Neu-Laxova syndrome stillborn: a Brazilian case report. Am J Med Genet A. 182(6):1473-6, 2020
                                                                      2. Bourque DK et al: Neu-Laxova syndrome presenting prenatally with increased nuchal translucency and cystic hygroma: the utility of exome sequencing in deciphering the diagnosis. Am J Med Genet A. 179(5):813-16, 2019
                                                                      3. Dwivedi T et al: Neu Laxova syndrome. Indian J Pathol Microbiol. 62(1):149-52, 2019
                                                                      4. Ni C et al: Novel and recurrent PHGDH and PSAT1 mutations in Chinese patients with Neu-Laxova syndrome. Eur J Dermatol. 29(6):641-6, 2019
                                                                      5. Wood AM et al: Prenatal genetic diagnosis of Neu-Laxova syndrome. J Obstet Gynaecol. 38(3):413-14, 2018
                                                                      6. Mattos EP et al: Identification of a premature stop codon mutation in the PHGDH gene in severe Neu-Laxova syndrome-evidence for phenotypic variability. Am J Med Genet A. 167(6):1323-9, 2015
                                                                      7. Acuna-Hidalgo R et al: Neu-Laxova syndrome is a heterogeneous metabolic disorder caused by defects in enzymes of the L-serine biosynthesis pathway. Am J Hum Genet. 95(3):285-93, 2014
                                                                      8. Roy S et al: Neu-Laxova syndrome: a case report. Mymensingh Med J. 23(1):167-9, 2014
                                                                      9. Shaheen R et al: Neu-Laxova syndrome, an inborn error of serine metabolism, is caused by mutations in PHGDH. Am J Hum Genet. 94(6):898-904, 2014
                                                                      10. Badakali M et al: Rare manifestations of Neu-Laxova syndrome. Fetal Pediatr Pathol. 31(1):1-5, 2012
                                                                      11. Dhillon P et al: Neu-Laxova syndrome: a prenatal diagnosis. J Miss State Med Assoc. 52(10):307-9, 2011
                                                                      12. Coto-Puckett WL et al: A spectrum of phenotypical expression OF Neu-Laxova syndrome: Three case reports and a review of the literature. Fetal Pediatr Pathol. 29(2):108-19, 2010
                                                                      13. Manar AL et al: Neu-Laxova syndrome: a new patient with detailed antenatal and post-natal findings. Am J Med Genet A. 152A(12):3193-6, 2010
                                                                      14. Tarim E et al: Prenatal diagnosis and postmortem findings of Neu-laxova syndrome. J Turk Ger Gynecol Assoc. 11(4):225-7, 2010
                                                                      15. Kahyaoglu S et al: Neu-Laxova syndrome, grossly appearing normal on 20 weeks ultrasonographic scan, that manifested late in pregnancy: a case report. Arch Gynecol Obstet. 276(4):367-70, 2007
                                                                      16. Martín A et al: A rare cause of polyhydramnios: Neu-Laxova syndrome. J Matern Fetal Neonatal Med. 19(7):439-42, 2006
                                                                      17. Ugras M et al: Neu-Laxova syndrome: a case report and review of the literature. J Eur Acad Dermatol Venereol. 20(9):1126-8, 2006
                                                                      18. Mihci E et al: Evaluation of a fetus with Neu-Laxova syndrome through prenatal, clinical, and pathological findings. Fetal Diagn Ther. 20(3):167-70, 2005
                                                                      19. Manning MA et al: Neu-Laxova syndrome: detailed prenatal diagnostic and post-mortem findings and literature review. Am J Med Genet A. 125A(3):240-9, 2004
                                                                      20. Shivarajan MA et al: Second trimester diagnosis of Neu Laxova syndrome. Prenat Diagn. 23(1):21-4, 2003
                                                                      21. Driggers RW et al: Early second trimester prenatal diagnosis of Neu-Laxova syndrome. Prenat Diagn. 22(2):118-20, 2002
                                                                      22. Durr-e-Sabih et al: Prenatal sonographic diagnosis of Neu-Laxova syndrome. J Clin Ultrasound. 29(9):531-4, 2001
                                                                      23. Rode ME et al: Early ultrasound diagnosis of Neu-Laxova syndrome. Prenat Diagn. 21(7):575-80, 2001