| Literature DB >> 1632450 |
B A Semmekrot1, A Haraldsson, C M Weemaes, D F Smeets, W B Geven, H G Brunner.
Abstract
A patient is described who presented with severe congenital anemia, hydrops fetalis, immune disorder, and absent thumbs. No toxic, infectious, or metabolic cause was found to explain these symptoms. Immunologic and cytogenetic studies excluded several syndromes that combine radial ray anomalies with hematological involvement. After careful study of the literature, it is concluded that the disorder described here represents a new syndrome that can be added to a growing list of hematological-radial syndromes.Entities:
Mesh:
Year: 1992 PMID: 1632450 DOI: 10.1002/ajmg.1320420523
Source DB: PubMed Journal: Am J Med Genet ISSN: 0148-7299