von Voss-Cherstvoy syndrome with transient thrombocytopenia and normal psychomotor development

Am J Med Genet A. 2004 Apr 30;126A(3):299-302. doi: 10.1002/ajmg.a.20593.


We report a 16-month-old patient with meningoencephalocele, absence of the radii, ambiguous genitalia, and transient neonatal thrombocytopenia. The phenotype strongly suggests the von Voss-Cherstvoy syndrome. Thrombocytopenia was present during the first 2 weeks of life and not found in subsequent determinations. This observation suggests that thrombocytopenia is a transient part of the syndrome. Among the patients reported so far our case appears to represent the mildest phenotype. Despite the neonatal complications and meningoencephalocele, the patient currently has normal psychomotor development.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.
  • Review

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Adolescent
  • Child Development
  • Encephalocele / genetics*
  • Extremities / pathology
  • Female
  • Humans
  • Infant
  • Male
  • Psychomotor Performance / physiology*
  • Syndrome
  • Thrombocytopenia / genetics*