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

作者信息

Berthold F, Fuhrmann W, Lampert F

机构信息

Kinderpoliklinik, Justus-Liebig Universität, Giessen, Federal Republic of Germany.

出版信息

Eur J Pediatr. 1987 Nov;146(6):605-7. doi: 10.1007/BF02467366.

DOI:10.1007/BF02467366
PMID:3428295
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.

摘要

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本文引用的文献

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FAMILIAL LOW BIRTHWEIGHT DWARFISM WITH AN UNUSUAL FACIES AND A SKIN ERUPTION.伴有特殊面容及皮疹的家族性低体重侏儒症
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Co-existence of Dubowitz and hyper-IgE syndromes: a case report.杜波维茨综合征与高免疫球蛋白E综合征并存:一例报告
Eur J Pediatr. 1996 May;155(5):390-2. doi: 10.1007/BF01955268.
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Severe intrauterine growth retardation with increased mitomycin C sensitivity: a further chromosome breakage syndrome.伴有丝裂霉素C敏感性增加的严重宫内生长迟缓:一种新的染色体断裂综合征。
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杜波维茨综合征:进一步观察
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The Dubowitz syndrome.杜波维茨综合征。
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Studies of malformation syndromes of man XXIV B: the Dubowitz syndrome. Further observations.人类畸形综合征研究二十四 B:杜波维茨综合征。进一步观察。
Z Kinderheilkd. 1973 Dec 12;116(1):1-12. doi: 10.1007/BF00438824.
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Multiple neoplasms in an adolescent child associated with IGA deficiency.一名青少年儿童中与免疫球蛋白A缺乏相关的多种肿瘤。
Cancer. 1974 Apr;33(4):1134-44. doi: 10.1002/1097-0142(197404)33:4<1134::aid-cncr2820330437>3.0.co;2-7.
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Aplastic anemia in Dubowitz syndrome.杜波维茨综合征中的再生障碍性贫血。
J Pediatr. 1985 Apr;106(4):622-3. doi: 10.1016/s0022-3476(85)80089-5.
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The Dubowitz syndrome: a retrospective.杜波维茨综合征:一项回顾性研究。
J Craniofac Genet Dev Biol Suppl. 1985;1:283-6.
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The Dubowitz syndrome.杜波维茨综合征
Eur J Pediatr. 1986 Apr;144(6):574-8. doi: 10.1007/BF00496039.