Literature DB >> 8511046

Aplastic anemia associated with "bird-headed" dwarfism (Seckel syndrome).

H Espérou-Bourdeau1, T Leblanc, G Schaison, E Gluckman.   

Abstract

The Seckel syndrome or "bird-headed" dwarfism associates a severe short stature, mental deficiency and various malformations with characteristic facial appearance. It has been described in these children a moderate or severe marrow hypoplasia. The aplasia is unlikely constitutional and different from the Fanconi disease hypoplasia. We report here 2 cases of a such association. One of them had been cured by bone marrow transplantation.

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Year:  1993        PMID: 8511046

Source DB:  PubMed          Journal:  Nouv Rev Fr Hematol


  3 in total

1.  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

2.  Anesthetic management of a child with Seckel syndrome for multiple extractions and restoration of teeth.

Authors:  Suman Arora; Babita Ghai; Vidya Rattan
Journal:  J Anaesthesiol Clin Pharmacol       Date:  2012-07

3.  Central nervous system vasculopathy and Seckel syndrome: case illustration and systematic review.

Authors:  Osama Khojah; Saeed Alamoudi; Nouf Aldawsari; Mohammed Babgi; Ahmed Lary
Journal:  Childs Nerv Syst       Date:  2021-08-03       Impact factor: 1.475

  3 in total

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