XK-aprosencephaly and related entities.

  title={XK-aprosencephaly and related entities.},
  author={Giulia Renzetti and Anita Villani and Carla Bizzarri and Luciana Chessa and Elettra Vignati and Aldo Gianotti and Marco Cappa and Juliana Szakacs and Jeanette J Townsend and M. E. Y. Miller and John M Opitz and Anne M. Kennedy and Janice L. B. Byrne},
  journal={American journal of medical genetics. Part A},
  volume={138 4},
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 nonconsanguineous 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… CONTINUE READING