Semilobar holoprosencephaly in Seckel syndrome

Indian J Pediatr. 2008 May;75(5):519-20. doi: 10.1007/s12098-008-0083-9. Epub 2008 Jun 8.

Abstract

Seckel syndrome is a rare genetic disorder with autosomal recessive inheritance. It is associated with many CNS anomalies along with involvement of other systems. We present a case of Seckel syndrome with semilobar holoprosencephaly as associated CNS anomaly, which to the best of our knowledge has not been reported earlier.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple*
  • Dwarfism
  • Holoprosencephaly*
  • Humans
  • Infant, Newborn
  • Intellectual Disability
  • Male
  • Microcephaly
  • Syndrome