Literature DB >> 3732321

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

N Muis, F A Beemer, P van Dijken, J M Klep-de Pater.   

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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Year:  1986        PMID: 3732321     DOI: 10.1007/bf00441882

Source DB:  PubMed          Journal:  Eur J Pediatr        ISSN: 0340-6199            Impact factor:   3.183


  13 in total

1.  Congenital (erythroid) hypoplastic anemia. A 25-year study.

Authors:  L K DIAMOND; D M ALLEN; F B MAGILL
Journal:  Am J Dis Child       Date:  1961-09

2.  A female patient with "Aase syndrome".

Authors:  M van Weel-Sipman; J J van de Kamp; J de Koning
Journal:  J Pediatr       Date:  1977-11       Impact factor: 4.406

3.  [Hypoplastic anemia accompanied by triphalangeal thumbs (author's transl)].

Authors:  H G Terheggen
Journal:  Z Kinderheilkd       Date:  1974

4.  Triphalangeal thumbs associated with hypoplastic anemia.

Authors:  B Jones; H Thompson
Journal:  Pediatrics       Date:  1973-10       Impact factor: 7.124

5.  Triphalangeal thumbs and congenital erythroid hypoplasia: report of a case with unusual features.

Authors:  S Murphy; B Lubin
Journal:  J Pediatr       Date:  1972-11       Impact factor: 4.406

6.  Congenital anemia and triphalangeal thumbs: a new syndrome.

Authors:  J M Aase; D W Smith
Journal:  J Pediatr       Date:  1969-03       Impact factor: 4.406

7.  [The Aase syndrome: hereditary autosomal recessive congenital erythropoiesis insufficiency and triphalangeal thumbs].

Authors:  R A Pfeiffer; E Ambs
Journal:  Monatsschr Kinderheilkd       Date:  1983-04       Impact factor: 0.323

8.  Thumbs and anemia.

Authors:  B P Alter
Journal:  Pediatrics       Date:  1978-10       Impact factor: 7.124

9.  Congenital hypoplastic anaemia.

Authors:  D R Harvey
Journal:  Proc R Soc Med       Date:  1966-06

Review 10.  Congenital hypoplastic anemia.

Authors:  L K Diamond; W C Wang; B P Alter
Journal:  Adv Pediatr       Date:  1976
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  2 in total

1.  DNA Methyl Transferase 3A (DNMT3A) Mutation Presenting as Isolated Pure Red Cell Aplasia.

Authors:  Adarsh Sidda; Gurusidda Manu; Mohamed Alsharedi; Jennifer Dotson; Niru Nahar
Journal:  J Investig Med High Impact Case Rep       Date:  2022 Jan-Dec

Review 2.  Erythrocyte disorders in the perinatal period.

Authors:  Laurie A Steiner; Patrick G Gallagher
Journal:  Semin Perinatol       Date:  2007-08       Impact factor: 3.300

  2 in total

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