Embryonal rhabdomyosarcoma and chromosomal breakage in a newborn infant with possible Dubowitz syndrome

Am J Med Genet. 2000 May 15;92(2):107-10. doi: 10.1002/(sici)1096-8628(20000515)92:2<107::aid-ajmg5>3.0.co;2-l.


We report on a newborn girl with Dubowitz syndrome (DS) and embryonal rhabdomyosarcoma (ERMS), with multiple chromosomal breakage (MCB). The tumor was resected but recurred in a few months, resulting in the infant's death. Malignancy and chromosomal breakage have been reported previously in DS. However, ERMS has not been reported among the malignant tumors diagnosed in DS. To our knowledge, concurrence of DS, ERMS, and MCB has not been reported previously. This is the first observation of DS in the Arab ethnic group.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Abnormalities, Multiple*
  • Adolescent
  • Child
  • Child, Preschool
  • Chromosome Breakage*
  • Fatal Outcome
  • Female
  • Growth Disorders / complications*
  • Growth Disorders / genetics
  • Humans
  • Infant
  • Infant, Low Birth Weight
  • Infant, Newborn
  • Male
  • Microcephaly
  • Rhabdomyosarcoma, Embryonal / complications*
  • Rhabdomyosarcoma, Embryonal / genetics
  • Rhabdomyosarcoma, Embryonal / pathology
  • Syndrome
  • Thorax