XK-aprosencephaly and related entities

G. Renzetti, A. Villani, C. Bizzarri, L. Chessa, E. Vignati, A. Gianotti, M. Cappa, Juliana Szakacs, Jeanette J. Townsend, Mark E. Miller, John M. Opitz, Anne M. Kennedy, Janice L. Byrne

Research output: Contribution to journalArticle

Abstract

We offer further biological characterization of the XK atelen/ aprosencephaly syndrome in two infants, one with prolonged survival, the other presenting prenatally with apparent hydranencephaly and an orbital tumor (OS). Familial occurrence in the former born to presumably non-consanguineous Lybian parents may represent parental germinal mosaicism or autosomal recessive inheritance. Both had apparently normal chromosomes; however, the Lybian infant had slightly increased induced chromosome breakage suggesting that this rare multiple congenital anomalies syndrome may involve a DNA repair defect. Virtual absence of atelen/aprosencephalic structures may lead to an arthrogryposis-like prenatal movement disorder. The orbital tumor in the Utah infant consisted of dystopic neural tissue compressing a rudimentary globe and was connected by a thin bridge of neural tissue to the small mass of disorganized brain tissue usually found in atelen/aprosencephalic infants and fetuses. No evidence of an encephaloclastic process was found in the autopsied Utah infant.

Original languageEnglish
Pages (from-to)401-410
Number of pages10
JournalAmerican Journal of Medical Genetics
Volume138 A
Issue number4
DOIs
Publication statusPublished - Nov 1 2005

Keywords

  • Anterior chamber dysgenesis
  • Aprosencephaly
  • Atelencephaly
  • Chromosome breakage
  • Garcia-Lurie syndrome
  • Hydranencephaly
  • Microphthalmia
  • Radial dysgenesis
  • XK syndrome

ASJC Scopus subject areas

  • Genetics(clinical)

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  • Cite this

    Renzetti, G., Villani, A., Bizzarri, C., Chessa, L., Vignati, E., Gianotti, A., Cappa, M., Szakacs, J., Townsend, J. J., Miller, M. E., Opitz, J. M., Kennedy, A. M., & Byrne, J. L. (2005). XK-aprosencephaly and related entities. American Journal of Medical Genetics, 138 A(4), 401-410. https://doi.org/10.1002/ajmg.a.30600