A novel form of lethal microcephaly with simplified gyral pattern and brain stem hypoplasia

Anna Rajab, M. Chiara Manzini, Ganeshwaran H. Mochida, Christopher A. Walsh, M. Elizabeth Ross

Research output: Contribution to journalArticlepeer-review

17 Scopus citations


We report on four patients from the same family affected by a lethal form of autosomal recessive microcephaly of prenatal onset. Symptoms include low birth-weight and length with disproportionately small head, fetal distress, apnea, seizures and facial features reminiscent of Amish microcephaly and Bowen-Conradi syndrome. Brain imaging revealed a simplified gyral pattern with normal to slightly thinned cortical gray matter, thin corpus callosum, mild brainstem and cerebellar hypoplasia. No abnormalities of the internal organs, eye, or skeleton, and no striking dysmorphic facial features were found to be associated with this syndrome. All patients died within hours to weeks after birth following severe apnea attacks and central hypoventilation. Recessive primary microcephaly with lethality in early infancy is rarely reported. The patients described here do not resemble any other published cases of such clinical severity and the locus for the only reported early lethal microcephaly gene found in Amish families was excluded. Therefore, this appears to be a distinct genetic cause of lethal microcephaly.

Original languageEnglish (US)
Pages (from-to)2761-2767
Number of pages7
JournalAmerican Journal of Medical Genetics, Part A
Issue number23
StatePublished - Dec 1 2007
Externally publishedYes

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)


  • Apnea
  • Autosomal recessive inheritance
  • Fetal distress
  • Lethal microcephaly
  • Simplified gyral pattern


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