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.
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
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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