Fanconi anaemia

نویسنده

  • Jean-Loup Huret
چکیده

Growth retardation (70% of cases). Skin abnormalities: hyperpigmentation and/or café au lait spots in 80%. Squeletal malformations (60%), particularly radius axis defects (absent or hypoplastic thumb or radius...). No immune deficiency (in contrast with most other chromosome instability syndromes). Progressive bone marrow failure; mean age of onset of anemia: 8 yrs; diagnosis made before onset of haematologic manifestations in only 30%. Other: renal anomalies, hypogonadism, mental impairment, heart defects, and perhaps diabetes mellitus, also occur in 10 to 30% of cases.

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منابع مشابه

Clinical and chromosome studies in Fanconi's aplastic anaemia.

A pernicious anaemia-like picture of the peripheral blood associated with congenital abnormalities was first described by Fanconi (1927) in three brothers. Since then a similar syndrome has been reported from many parts of the world under the title of Fanconi's aplastic anaemia. Gmyrek and Syllm-Rapoport (1964) have reviewed 152 cases in the literature in considerable detail. Bloom et al. (1966...

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Anhang A Ergänzende Literaturhinweise

Schroeder-Kurth TM, Auerbach AD, Obe G (1989) Fanconi Anemia. Clinical, Cytogenetic and Experimental Aspects. Berlin, Germany, Springer Verlag Alter BP (1994) Clinical features of Fanconi anaemia. In: Young NS, Alter BP (eds) Aplastic Anaemia: Acquired and Inherited. W.B. Saunders, Philadelphia, pp 275-308 Auerbach AD, Buchwald M, Joenje H (2003) Fanconi anaemia. In: Vogelstein B, Kinzler KW (e...

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Pregnancy in fanconi anaemia with bone marrow failure: a case report and review of the literature

BACKGROUND Fanconi anaemia is a rare inherited disease characterized by congenital abnormalities, progressive bone marrow failure and predisposition to malignancy. Successful pregnancies in transplanted patients have been reported. In this paper we will describe the pregnancy of a patient with Fanconi anaemia without transplantation. CASE PRESENTATION A 34-year-old nulliparous woman with Fanc...

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p53 downregulates the Fanconi anaemia DNA repair pathway

Germline mutations affecting telomere maintenance or DNA repair may, respectively, cause dyskeratosis congenita or Fanconi anaemia, two clinically related bone marrow failure syndromes. Mice expressing p53(Δ31), a mutant p53 lacking the C terminus, model dyskeratosis congenita. Accordingly, the increased p53 activity in p53(Δ31/Δ31) fibroblasts correlated with a decreased expression of 4 genes ...

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Oesophageal atresia, VACTERL association: Fanconi's anaemia related spectrum of anomalies.

Oesophageal atresia usually occurs without any genetic background. Three cases associated with Fanconi's anaemia are reported. One neonate had growth retardation and numerous malformations including oesophageal atresia and four other components of the VACTERL association. In the two others, oesophageal atresia was isolated. In patients with such malformations an early diagnosis of Fanconi's ana...

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Fanconi anaemia with bilateral diffuse pulmonary arterio venous fistulae: a case report

BACKGROUND We report a patient with cytogenetically confirmed Fanconi anaemia with associated diffuse bilateral pulmonary arterio-venous fistulae. This is only the second reported case of diffuse pulmonary arterio-venous fistulae with Fanconi anaemia. CASE PRESENTATION A 16 year old Sri Lankan boy, with a cytogenetically confirmed Fanconi anaemia was admitted to University Medical Unit, Natio...

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تاریخ انتشار 2011