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The Aase syndrome

Case report and review of the literature

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Abstract

A 5-month-old boy with congenital hypoplastic anaemia and triphangeal thumbs, known as the Aase syndrome, is described. In addition he had unilateral cleft lip and palate and abnormal dermatoglyphics.

Only ten cases have been reported previously; these are reviewed. This case is the third patient reported to have the Aase syndrome who also has a cleft lip. Bone marrow cultures failed to stimulate production of erythropoietic precursors.

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Abbreviations

CHA:

congenital hypoplastic anaemia

TAR:

radial aplasiathrombocytopenia syndrome

WBC:

white blood cell count

CFU-GM:

Colony forming units of the granulocytic and monocytic cell line

CFU-E:

Colony forming units of the erythrocytic cell line

BFU-E:

burst forming units of the erythrocytic cell line

References

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Author information

Author notes

  1. N. Muis

    Present address: Dept. Paed. Oncol., University Hospital, Groningen

Authors and Affiliations

  1. University Hospital for Children and Youth “Het Wilhelmina Kinderziekenhuis”, Nieuwe Gracht 137, 3512 LK, Utrecht, The Netherlands

    N. Muis, F. A. Beemer & P. van Dijken

  2. Department of General Pediatrics (NM and FAB) and Hematology (PvD), Clinical Genetics Center, Utrecht, The Netherlands

    F. A. Beemer & J. M. Klep-de Pater

Authors
  1. N. Muis
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  2. F. A. Beemer
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  3. P. van Dijken
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  4. J. M. Klep-de Pater
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Muis, N., Beemer, F.A., van Dijken, P. et al. The Aase syndrome. Eur J Pediatr 145, 153–157 (1986). https://doi.org/10.1007/BF00441882

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  • DOI: https://doi.org/10.1007/BF00441882

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