Literature DB >> 3428295

Fatal aplastic anaemia in a child with features of Dubowitz syndrome.

F Berthold1, W Fuhrmann, F Lampert.   

Abstract

We describe a boy with features of Dubowitz syndrome who developed anaemia, thrombocytopenia and granulocytopenia at 3 years of age. The family refused blood component transfusion and he died 6 months later from severe anaemia and pulmonary bleeding. This is the second case of bone marrow aplasia in 38 reported cases of Dubowitz syndrome. It is proposed that patients with Dubowitz syndrome need long-term follow up, including complete blood counts.

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Year:  1987        PMID: 3428295     DOI: 10.1007/BF02467366

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


  14 in total

1.  FAMILIAL LOW BIRTHWEIGHT DWARFISM WITH AN UNUSUAL FACIES AND A SKIN ERUPTION.

Authors:  V DUBOWITZ
Journal:  J Med Genet       Date:  1965-03       Impact factor: 6.318

2.  A rare type of low birthweight dwarfism: the Dubowitz syndrome.

Authors:  F Majewski; R Michaelis; K Moosmann; J R Bierich
Journal:  Z Kinderheilkd       Date:  1975-11-13

3.  The Dubowitz syndrome.

Authors:  R S Wilroy; R E Tipton; R L Summitt
Journal:  Am J Med Genet       Date:  1978

4.  The Dubowitz syndrome.

Authors:  W Küster; F Majewski
Journal:  Eur J Pediatr       Date:  1986-04       Impact factor: 3.183

5.  Multiple neoplasms in an adolescent child associated with IGA deficiency.

Authors:  A B Hamoudi; I Ertel; W A Newton; C B Reiner; H W Clatworthy
Journal:  Cancer       Date:  1974-04       Impact factor: 6.860

6.  Studies of malformation syndromes of man XXIV B: the Dubowitz syndrome. Further observations.

Authors:  J M Opitz; R A Pfeiffer; J P Hermann; T Kushnick
Journal:  Z Kinderheilkd       Date:  1973-12-12

7.  The Dubowitz syndrome.

Authors:  R Grosse; J Gorlin; J M Opitz
Journal:  Z Kinderheilkd       Date:  1971

Review 8.  The Dubowitz syndrome: further observations.

Authors:  W W Orrison; E R Schnitzler; R W Chun
Journal:  Am J Med Genet       Date:  1980

9.  [Dubowitz syndrome with immunodeficiency and solid malignant tumor in two siblings (author's transl)].

Authors:  O Sauer; G Spelger
Journal:  Monatsschr Kinderheilkd       Date:  1977-10

10.  [Dubowitz syndrome and acute lymphatic leukemia].

Authors:  H Gröbe
Journal:  Monatsschr Kinderheilkd       Date:  1983-07       Impact factor: 0.323

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  5 in total

1.  Co-existence of Dubowitz and hyper-IgE syndromes: a case report.

Authors:  K Antoniades; M Hatzistilianou; G Pitsavas; C Agouridaki; F Athanassiadou
Journal:  Eur J Pediatr       Date:  1996-05       Impact factor: 3.183

2.  Severe intrauterine growth retardation with increased mitomycin C sensitivity: a further chromosome breakage syndrome.

Authors:  C G Woods; M Leversha; J G Rogers
Journal:  J Med Genet       Date:  1995-04       Impact factor: 6.318

3.  Dubowitz syndrome: a review and implications for cognitive, behavioral, and psychological features.

Authors:  Rebekah S Huber; Daniel Houlihan; Kevin Filter
Journal:  J Clin Med Res       Date:  2011-07-26

4.  Successful bone marrow transplantation in a patient with DNA ligase IV deficiency and bone marrow failure.

Authors:  Bernd Gruhn; Joerg Seidel; Felix Zintl; Raymonda Varon; Holger Tönnies; Heidemarie Neitzel; Astrid Bechtold; Holger Hoehn; Detlev Schindler
Journal:  Orphanet J Rare Dis       Date:  2007-01-15       Impact factor: 4.123

5.  Identification of the DNA repair defects in a case of Dubowitz syndrome.

Authors:  Jingyin Yue; Huimei Lu; Shijie Lan; Jingmei Liu; Mark N Stein; Bruce G Haffty; Zhiyuan Shen
Journal:  PLoS One       Date:  2013-01-25       Impact factor: 3.240

  5 in total

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