Literature DB >> 1632450

Absent thumb, immune disorder, and congenital anemia presenting with hydrops fetalis.

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.

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Year:  1992        PMID: 1632450     DOI: 10.1002/ajmg.1320420523

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN: 0148-7299


  1 in total

1.  Recurring mutations in RPL15 are linked to hydrops fetalis and treatment independence in Diamond-Blackfan anemia.

Authors:  Marcin W Wlodarski; Lydie Da Costa; Marie-Françoise O'Donohue; Marc Gastou; Narjesse Karboul; Nathalie Montel-Lehry; Ina Hainmann; Dominika Danda; Amina Szvetnik; Victor Pastor; Nahuel Paolini; Franca M di Summa; Hannah Tamary; Abed Abu Quider; Anna Aspesi; Riekelt H Houtkooper; Thierry Leblanc; Charlotte M Niemeyer; Pierre-Emmanuel Gleizes; Alyson W MacInnes
Journal:  Haematologica       Date:  2018-03-29       Impact factor: 9.941

  1 in total

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