Early second trimester prenatal diagnosis of Neu-Laxova syndrome

R. W. Driggers, S. Isbister, C. McShane, K. Stone, K. Blakemore

Research output: Contribution to journalArticlepeer-review

Abstract

Neu-Laxova is a rare, uniformly lethal, autosomal recessive condition with characteristic limb posturing, facial dysmorphic features, and central nervous system abnormalities. Forty-two cases of Neu-Laxova syndrome have been reported, with only four of these diagnosed prenatally. Three of the four cases were diagnosed at or after 32 weeks' gestation. The fourth case was diagnosed at 22 weeks' gestation in a patient who was followed with serial ultrasound studies due to having a prior affected child. At 19 weeks' gestation, we present the earliest reported prenatal diagnosis of Neu-Laxova syndrome in a primigravida with a non-informative family history.

Original languageEnglish (US)
Pages (from-to)118-120
Number of pages3
JournalPrenatal Diagnosis
Volume22
Issue number2
DOIs
StatePublished - 2002

Keywords

  • Autosomal recessive syndrome
  • Limb contractures
  • Neu-Laxova syndrome

ASJC Scopus subject areas

  • Obstetrics and Gynecology
  • Genetics(clinical)

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