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