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 Citations (Scopus)

Abstract

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
Volume15
Issue number6
StatePublished - 1978
Externally publishedYes

Fingerprint

Congenital Hypoplastic Anemia
Parents
Triphalangeal Thumb
Thumb deformity
Aase Smith syndrome 2

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.

The Aase syndrome in a female infant. / Higginbottom, M. C.; Jones, K. L.; Kung, F. H.; Koch, T. K.; Boyer, J. L.

In: Journal of Medical Genetics, Vol. 15, No. 6, 1978, p. 484-486.

Research output: Contribution to journalArticle

Higginbottom, MC, Jones, KL, Kung, FH, Koch, TK & Boyer, JL 1978, 'The Aase syndrome in a female infant', Journal of Medical Genetics, vol. 15, no. 6, pp. 484-486.
Higginbottom MC, Jones KL, Kung FH, Koch TK, Boyer JL. The Aase syndrome in a female infant. Journal of Medical Genetics. 1978;15(6):484-486.
Higginbottom, M. C. ; Jones, K. L. ; Kung, F. H. ; Koch, T. K. ; Boyer, J. L. / The Aase syndrome in a female infant. In: Journal of Medical Genetics. 1978 ; Vol. 15, No. 6. pp. 484-486.
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