Agenesis of the corpus callosum and congenital lymphedema: A novel recognizable syndrome?

Mary C. O'Driscoll, Kim Jenny, Sulagna Saitta, William B. Dobyns, Karen W. Gripp

Research output: Contribution to journalArticlepeer-review

1 Scopus citations

Abstract

We present double first cousins, a girl and a boy, with the uncommon association of agenesis of the corpus callosum and congenital lymphedema. Other features shared by both include oligohydramnios, similar facial dysmorphism, sacral dimple, developmental delay, and sociable personality. While some of these findings overlap with FG syndrome and Hennekam syndrome, the findings in our patients are sufficiently different to exclude these diagnoses. We propose that this is a new syndrome with presumed autosomal recessive inheritance.

Original languageEnglish (US)
Pages (from-to)1621-1626
Number of pages6
JournalAmerican Journal of Medical Genetics, Part A
Volume152
Issue number7
DOIs
StatePublished - Jul 2010
Externally publishedYes

Keywords

  • Agenesis of the corpus callosum
  • Congenital lymphedema
  • Developmental delay
  • Hypotonia
  • Sacral dimple

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