A case of Norman-Roberts syndrome identified from postnatal diagnosis of microlissencephaly

Fetal Pediatr Pathol. 2015 Jun;34(3):197-201. doi: 10.3109/15513815.2015.1031414. Epub 2015 Apr 30.

Abstract

Lissencephaly is a rare brain malformation. What differentiates microlissencephaly from classical lissencephaly and other variants is the presence of severe microcephaly. Very few postnatal cases of Norman-Roberts syndrome are described in the literature. We report a case of microlissencephaly with a polymalformative syndrome that prompted postnatal diagnosis of Norman-Roberts syndrome.

Keywords: Norman–Roberts syndrome; microcephaly; postnatal diagnosis; rare disease.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / pathology*
  • Female
  • Humans
  • Lissencephaly / pathology*
  • Microcephaly / pathology*
  • Pregnancy

Supplementary concepts

  • Norman Roberts lissencephaly syndrome