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The Aase syndrome. Case report and review of the literature.

Authors
  • Muis, N
  • Beemer, F A
  • van Dijken, P
  • Klep-de Pater, J M
Type
Published Article
Journal
European journal of pediatrics
Publication Date
Apr 01, 1986
Volume
145
Issue
1-2
Pages
153–157
Identifiers
PMID: 3732321
Source
Medline
License
Unknown

Abstract

A 5-month-old boy with congenital hypoplastic anaemia and triphalangeal 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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