Thrombocytopenia, absent radius syndrome

Report of two siblings and a review of the hematologic and genetic features

P. C. Dell, Joseph E Sheppard

Research output: Contribution to journalArticle

9 Citations (Scopus)

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 - 1982
Externally publishedYes

Fingerprint

Bone Wires
Elbow
Germ Cells
Thrombocytopenia
Mutation
Absent radii and thrombocytopenia

ASJC Scopus subject areas

  • Orthopedics and Sports Medicine
  • Surgery

Cite this

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title = "Thrombocytopenia, absent radius syndrome: Report of two siblings and a review of the hematologic and genetic features",
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.",
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N2 - 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.

AB - 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.

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