Neu Laxova syndrome

Indian J Pathol Microbiol. 2019 Jan-Mar;62(1):149-152. doi: 10.4103/IJPM.IJPM_351_17.


NeuLaxova syndrome (NLS) is a rare congenital abnormality involving multiple systems. Until date, only 60 cases of this syndrome have been reported in the literature. A stillborn fetus from a 23-year-old female with bad obstetrics history and consanguinity marriage, presented at 41 weeks gestation and not appreciating fetal movements for the past 3 days. Ultrasound examination revealed the absence of fetal cardiac activity and features of growth retardation. The fetus was sent for pathological examination. At autopsy, fetus had ichthyosis over the scalp and face, depressed nasal bridge, low set ears, microcephaly, slopping forehead, wide interdigital spaces, edema of hands and feet, hypoplastic penis, right leg showed congenital talipes equinovarus and left leg showed rocker bottom foot. On dissection, all organs were in situ. Both lungs were hypoplastic, brain was atrophied, and heart showed right ventricle hypertrophied. A diagnosis of NLS was made. Genetic counseling and early serial ultrasound examination should be performed at high-risk families because of its autosomal recessive mode of inheritance. Early diagnosis of the disease may offer termination of the pregnancy as an option. The prognosis is poor, and the affected newborns are either stillborn or die immediately after birth.

Keywords: Congenital multiple abnormalities; Neulaxova syndrome; ichthyosis.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / diagnosis*
  • Brain / pathology
  • Brain Diseases / congenital
  • Brain Diseases / diagnosis*
  • Consanguinity
  • Face / pathology
  • Female
  • Fetal Growth Retardation / diagnosis*
  • Fetus / pathology*
  • Gestational Age
  • Growth Disorders / congenital*
  • Growth Disorders / diagnosis
  • Humans
  • Ichthyosis / diagnosis*
  • Infant, Newborn
  • Karyotyping
  • Limb Deformities, Congenital / diagnosis*
  • Microcephaly / diagnosis*
  • Microcephaly / etiology
  • Parents
  • Pregnancy
  • Risk Factors
  • Stillbirth
  • Young Adult

Supplementary concepts

  • Neu Laxova syndrome