Septo-Optic Dysplasia and Amniotic Bands: Further Evidence for a Vascular Pathogenesis

Cathy A. Stevens, William B. Dobyns

Research output: Contribution to journalArticlepeer-review

35 Scopus citations

Abstract

Septo-optic dysplasia (SOD) is a heterogeneous disorder. While most cases represent an isolated defect, SOD has also been seen in association with mutations in single genes, as a part of multiple congenital anomaly syndromes and with exposure to various teratogens. We report a boy with features of SOD who also has limb defects suggestive of amniotic bands. This case, in addition to others in the literature, provides evidence for a vascular pathogenesis of SOD in some individuals. This hypothesis is also supported by the sporadic occurrence of SOD and its association with decreased maternal age, vascular teratogens, and neuropathologic findings suggestive of vascular insults.

Original languageEnglish (US)
Pages (from-to)12-16
Number of pages5
JournalAmerican Journal of Medical Genetics
Volume125 A
Issue number1
DOIs
StatePublished - Feb 15 2004
Externally publishedYes

Keywords

  • Amniotic bands
  • Septo-optic dysplasia
  • Vascular disruption

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