The Aase syndrome in a female infant

M. C. Higginbottom, K. L. Jones, F. H. Kung, T. K. Koch, J. L. Boyer

Research output: Contribution to journalArticle

4 Scopus citations


This report describes a 2-month-old female with the Aase syndrome, bringing to 8 the total number of cases of this disorder. Features include triphalangeal thumbs and congenital hypoplastic anemia. The occurrence of this disorder in sibs born to unaffected parents and in both sexes makes autosomal recessive inheritance the most likely etiology.

Original languageEnglish (US)
Pages (from-to)484-486
Number of pages3
JournalJournal of medical genetics
Issue number6
StatePublished - Dec 1 1978


ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Higginbottom, M. C., Jones, K. L., Kung, F. H., Koch, T. K., & Boyer, J. L. (1978). The Aase syndrome in a female infant. Journal of medical genetics, 15(6), 484-486.