Literature DB >> 745221

The Aase syndrome in a female infant.

M C Higginbottom, K L Jones, F H Kung, T K Koch, J L Boyer.   

Abstract

This report describes a 2-month-old female with the Aase syndrome, bringing to 8 the total number of cases of this disorder. Features include triphalangeal thumbs and congenital hypoplastic anaemia. The occurrence of this disorder in sibs born to unaffected parents and in both sexes makes autosomal recessive inheritance the most likely aetiology.

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Year:  1978        PMID： 745221      PMCID： PMC1013768          DOI： 10.1136/jmg.15.6.484

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  7 in total

1.  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

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

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

3.  Triphalangeal thumbs associated with hypoplastic anemia.

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

4.  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

5.  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

6.  Congenital hypoplastic anaemia.

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

7.  Roentgen appearance of anomalies associated with hypoplastic anemias of childhood: Fanconi's anemia and congenital hypoplastic anemia (erythrogenesis imperfecta).

Authors:  H Minagi; H L Steinbach
Journal:  Am J Roentgenol Radium Ther Nucl Med       Date:  1966-05
  7 in total
  1 in total

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

Authors:  N Muis; F A Beemer; P van Dijken; J M Klep-de Pater
Journal:  Eur J Pediatr       Date:  1986-04       Impact factor: 3.183
  1 in total

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