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Neu-Laxova Syndrome
Anne M. Kennedy, MD
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KEY FACTS

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Pathology

          • Clinical Issues

            • Diagnostic Checklist

              TERMINOLOGY

              • Definitions

                • 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

                    • Microscopic Features

                      CLINICAL ISSUES

                      • Presentation

                        • Demographics

                          • Natural History & Prognosis

                            • Treatment

                              DIAGNOSTIC CHECKLIST

                              • Image Interpretation Pearls

                                • Reporting Tips

                                  Selected References

                                  1. 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
                                  2. 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
                                  3. Roy S et al: Neu-Laxova syndrome: a case report. Mymensingh Med J. 23(1):167-9, 2014
                                  4. 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
                                  5. Badakali M et al: Rare manifestations of Neu-Laxova syndrome. Fetal Pediatr Pathol. 31(1):1-5, 2012
                                  6. Dhillon P et al: Neu-Laxova syndrome: a prenatal diagnosis. J Miss State Med Assoc. 52(10):307-9, 2011
                                  7. 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
                                  8. 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
                                  9. Tarim E et al: Prenatal diagnosis and postmortem findings of Neu-laxova syndrome. J Turk Ger Gynecol Assoc. 11(4):225-7, 2010
                                  10. 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
                                  11. Martín A et al: A rare cause of polyhydramnios: Neu-Laxova syndrome. J Matern Fetal Neonatal Med. 19(7):439-42, 2006
                                  12. 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
                                  13. 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
                                  14. 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
                                  15. Shivarajan MA et al: Second trimester diagnosis of Neu Laxova syndrome. Prenat Diagn. 23(1):21-4, 2003
                                  16. Driggers RW et al: Early second trimester prenatal diagnosis of Neu-Laxova syndrome. Prenat Diagn. 22(2):118-20, 2002
                                  17. Durr-e-Sabih et al: Prenatal sonographic diagnosis of Neu-Laxova syndrome. J Clin Ultrasound. 29(9):531-4, 2001
                                  18. 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

                                                • 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

                                                    • Microscopic Features

                                                      CLINICAL ISSUES

                                                      • Presentation

                                                        • Demographics

                                                          • Natural History & Prognosis

                                                            • Treatment

                                                              DIAGNOSTIC CHECKLIST

                                                              • Image Interpretation Pearls

                                                                • Reporting Tips

                                                                  Selected References

                                                                  1. 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
                                                                  2. 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
                                                                  3. Roy S et al: Neu-Laxova syndrome: a case report. Mymensingh Med J. 23(1):167-9, 2014
                                                                  4. 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
                                                                  5. Badakali M et al: Rare manifestations of Neu-Laxova syndrome. Fetal Pediatr Pathol. 31(1):1-5, 2012
                                                                  6. Dhillon P et al: Neu-Laxova syndrome: a prenatal diagnosis. J Miss State Med Assoc. 52(10):307-9, 2011
                                                                  7. 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
                                                                  8. 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
                                                                  9. Tarim E et al: Prenatal diagnosis and postmortem findings of Neu-laxova syndrome. J Turk Ger Gynecol Assoc. 11(4):225-7, 2010
                                                                  10. 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
                                                                  11. Martín A et al: A rare cause of polyhydramnios: Neu-Laxova syndrome. J Matern Fetal Neonatal Med. 19(7):439-42, 2006
                                                                  12. 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
                                                                  13. 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
                                                                  14. 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
                                                                  15. Shivarajan MA et al: Second trimester diagnosis of Neu Laxova syndrome. Prenat Diagn. 23(1):21-4, 2003
                                                                  16. Driggers RW et al: Early second trimester prenatal diagnosis of Neu-Laxova syndrome. Prenat Diagn. 22(2):118-20, 2002
                                                                  17. Durr-e-Sabih et al: Prenatal sonographic diagnosis of Neu-Laxova syndrome. J Clin Ultrasound. 29(9):531-4, 2001
                                                                  18. Rode ME et al: Early ultrasound diagnosis of Neu-Laxova syndrome. Prenat Diagn. 21(7):575-80, 2001