Reference : Episphalosomic Syndrome : A Mca Syndrome Ressembling Fanconi Anemia, with Increased B...
Scientific journals : Article
Life sciences : Genetics & genetic processes
http://hdl.handle.net/2268/84477
Episphalosomic Syndrome : A Mca Syndrome Ressembling Fanconi Anemia, with Increased Baseline Level of Chromosome Breaks but No Hypersensivity to Clastogens
English
Verloes, Alain [Université de Liège - ULg > > Génétique générale et humaine >]
JAMAR, Mauricette mailto [Centre Hospitalier Universitaire de Liège - CHU > > Génétique >]
Dideberg, Vinciane mailto [Centre Hospitalier Universitaire de Liège - CHU > > Génétique >]
Herens, Christian mailto [Centre Hospitalier Universitaire de Liège - CHU > > PLAN COS >]
2001
Annales de Génétique
44
2, Apr-Jun
59-62
Yes (verified by ORBi)
0003-3995
[en] We describe a child with facial dysmorphism (trigonocephaly, epicanthus, upturned nose, small ears), thumb hypoplasia, micropenis, jejunal atresia and moderate mental retardation with dysphasia. Cytogenetic workup revealed high spontaneous level of chromosomal aberrations (without specific pattern and no quadriradial figures) and borderline to absent hypersensitivity to mitomycin C, making a diagnosis of Fanconi anemia unlikely. The child described here shares similarities with a small number of previous reports. We suggest to refer to this entity as episphalosomic syndrome. Episphalosomic syndrome shows some clinical overlap with Fanconi anemia, but lacks its cytogenetic hallmark. The hematological complications of Fanconi anemia have not been reported in this entity.
http://hdl.handle.net/2268/84477

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