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

摘要: We describe a child with facial dysmorphism (trigonocephaly, epicanthus, upturned nose, small ears), thumb hypoplasia, micropenis, jejunal atresia and moderate mental retardation dysphasia. Cytogenetic workup revealed high spontaneous level of chromosomal aberrations (without specific pattern no quadriradial figures) borderline to absent hypersensitivity mitomycin C, making diagnosis Fanconi anemia unlikely. The described here shares similarities number previous reports. suggest refer this entity as episphalosomic syndrome. Episphalosomic syndrome shows some clinical overlap anemia, but lacks its cytogenetic hallmark. hematological complications have not been reported in entity.