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, 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.
Verloes
A
A
Wallonia Centre for Human Genetics, Liège University, CHU Sart Tilman, B-4000, Liège, Belgium.
Jamar
M
M
Dideberg
V
V
Herens
C
C
D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics* / Q000503:physiopathology; D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D019457:Chromosome Breakage; D003937:Diagnosis, Differential; D005145:Face / Q000002:abnormalities; D005199:Fanconi Anemia / Q000175:diagnosis* / Q000235:genetics* / Q000503:physiopathology; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D016685:Mitomycin / Q000494:pharmacology; D010413:Penis / Q000002:abnormalities; D010641:Phenotype; D013577:Syndrome; D013933:Thumb / Q000002:abnormalities
D016685:Mitomycin