Familial lissencephaly with cleft palate and severe cerebellar hypoplasia

Am J Med Genet. 1999 Dec 22;87(5):440-5.


Lissencephaly is a brain malformation characterized by absence of gyral formation, resulting in a smooth brain surface. Histologic study shows severe anomalies of cerebral cortical development. Several lissencephaly syndromes have been described. Here we report a familial syndrome of lissencephaly, cleft palate, diffuse agyria, and severe cerebellar hypoplasia. Microscopic examination of the abnormally thick cerebral cortex showed absence of cortical layering, with preservation of the pia-glial barrier. This is the first report of recurrent lissencephaly with cleft palate and severe cerebellar hypoplasia in which these unique neuropathology findings are described. Autosomal recessive inheritance is suggested by recurrence in sibs within the same family, but germ cell mosaicism for a dominant mutation is not excluded.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Abnormalities, Multiple / pathology
  • Brain Diseases / genetics*
  • Brain Diseases / pathology
  • Cerebellum / abnormalities*
  • Cerebellum / pathology
  • Cerebral Cortex / abnormalities*
  • Cerebral Cortex / pathology
  • Cleft Palate / genetics*
  • Cleft Palate / pathology
  • Female
  • Fetus / pathology
  • Humans
  • Immunohistochemistry
  • Infant, Newborn
  • Male
  • Mesencephalon / abnormalities
  • Mesencephalon / pathology