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 journalArticle

65 Citations (Scopus)

Abstract

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
Volume70
Issue number2
DOIs
StatePublished - May 16 1997

Fingerprint

Nervous System Malformations
Central Nervous System
Group II Malformations of Cortical Development
Parents
Lissencephaly
Agenesis of Corpus Callosum
Consanguinity
Dwarfism
Cerebral Cortex
Cysts

Keywords

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

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

Central nervous system anomalies in Seckel syndrome : Report of a new family and review of the literature. / Shanske, Alan; Caride, Diana G.; Menasse-Palmer, Lisa; Bogdanow, Anna; Marion, Robert W.

In: American Journal of Medical Genetics, Vol. 70, No. 2, 16.05.1997, p. 155-158.

Research output: Contribution to journalArticle

Shanske, Alan ; Caride, Diana G. ; Menasse-Palmer, Lisa ; Bogdanow, Anna ; Marion, Robert W. / Central nervous system anomalies in Seckel syndrome : Report of a new family and review of the literature. In: American Journal of Medical Genetics. 1997 ; Vol. 70, No. 2. pp. 155-158.
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