Thrombocytopenia, absent radius syndrome: Report of two siblings and a review of the hematologic and genetic features

P. C. Dell, J. E. Sheppard

Research output: Contribution to journalArticlepeer-review

9 Scopus citations

Abstract

Two brothers are presented with radial dysplasia in association with amegakaryocytic thrombocytopenia without a positive family history. This probably represents a spontaneous mutation of parental gametes and subsequent autosomal dominant inheritance. A complete hematologic evaluation during infancy is important. Z-plasty of the elbow with intramedullary stabilization and supplemental splinting (after the Kirschner wire is removed) is the recommended treatment.

Original languageEnglish (US)
Pages (from-to)129-134
Number of pages6
JournalClinical orthopaedics and related research
VolumeNo. 162
StatePublished - Jan 1 1982

ASJC Scopus subject areas

  • Surgery
  • Orthopedics and Sports Medicine

Fingerprint Dive into the research topics of 'Thrombocytopenia, absent radius syndrome: Report of two siblings and a review of the hematologic and genetic features'. Together they form a unique fingerprint.

Cite this