Episphalosomic syndrome: a MCA syndrome ressembling Fanconi anemia, with increased baseline level of chromosome breaks but no hypersensivity to clastogens

We describe a child with facial dysmorphism (trigonocephaly, epicanthus, up turned nose, small ears), thumb hypoplasia, micropenis, jejunal atresia and moderate mental retardation with dysphasia. Cytogenetic workup revealed hi gh spontaneous level of chromosomal aberrations (without specific pattern a nd no quadriradial figures) and borderline to absent hypersensitivity to mi tomycin C, making a diagnosis of Fanconi anemia unlikely. The child describ ed here shares similarities with a small number of previous reports. We sug gest to refer to this entity as episphalosomic syndrome. Episphalosomic syn drome shows some clinical overlap with Fanconi anemia, but lacks its cytoge netic hallmark. The hematological complications of Fanconi anemia have not been reported in this entity. (C) 2001 Editions scientifiques et medicales Elsevier SAS.