Brief clinical report: a child with radius aplasia, cleft of lip and palate, microcephaly, and unusual chromosome findings

Am J Med Genet. 1982 Dec;13(4):369-72. doi: 10.1002/ajmg.1320130404.

Abstract

We report a child with malformation syndrome of microcephaly, asymmetrical radius aplasia, and cleft of lip and palate, who was mosaic for a chromosome marker and/or ring of unknown origin. In view of the reported cases of limb deficiency with chromosome abnormalities and the unlikelihood that the patient has a recognized genetic syndrome, the cause of the patient’s syndrome may well be the extra chromosomal material.

Publication types

  • Case Reports

MeSH terms

  • Chromosome Aberrations*
  • Cleft Lip / genetics*
  • Cleft Palate / genetics*
  • Female
  • Genetic Markers
  • Humans
  • Infant, Newborn
  • Microcephaly / genetics*
  • Mosaicism
  • Radius / abnormalities*
  • Syndrome

Substances

  • Genetic Markers