Central nervous system anomalies in Seckel syndrome: Report of a new family and review of the literature

Alan Shanske, Diana G. Caride, Lisa Menasse-Palmer, Anna Bogdanow, Robert W. Marion

Research output: Contribution to journalArticlepeer-review

78 Scopus citations


Seckel syndrome (SS) is a rare, heterogeneous form of primordial dwarfism. The clinical delineation of this disorder has been inconsistent, using even Seckel's original criteria. As a result, probably fewer than one- third of reported cases are truly affected with SS. Among these, there have been only six familial cases, all of whom were born to normal parents, and in only one case has a detailed description of the central nervous system (CNS) anomalies been given. We describe a family in which three of eight children were affected with SS. CNS anomalies seen in our patients included agenesis of the corpus callosum, a dysgenetic cerebral cortex, a large dorsal cerebral cyst, and pachygyria, suggesting an underlying neuronal migration disorder. The parents are first cousins, representing only the second instance of consanguinity, supporting an autosomal recessive mode of inheritance.

Original languageEnglish (US)
Pages (from-to)155-158
Number of pages4
JournalAmerican journal of medical genetics
Issue number2
StatePublished - May 16 1997
Externally publishedYes


  • Seckel syndrome
  • agenesis of the corpus callosum
  • autosomal recessive inheritance
  • dwarfism
  • microcephalic
  • neuronal migration disorder
  • pachygyria
  • primordial

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


Dive into the research topics of 'Central nervous system anomalies in Seckel syndrome: Report of a new family and review of the literature'. Together they form a unique fingerprint.

Cite this