Definition
Definition
Fanconi-ichthyosis-dysmorphism syndrome is characterized by the association of Fanconi anemia, muscular and skeletal abnormalities, ichthyosis, jaundice and diarrhea.
Symptoms
Epidemiology
Fanconi anemia, ichthyosis, and dysmorphia affected six children. Two of these children also presented with blood abnormalities such as morphologically abnormal platelets known as grey platelets.
Cause
Cause
The children affected by this disease are the product of consanguineous marriages. It therefore appears that Fanconi anemia, ichthyosis, and dysmorphia are the result of genetic abnormalities stemming from autosomal recessive transmission (both parents must carry the genetic abnormality for the offspring to exhibit the condition).
Evolution
Evolution
The prognosis for Fanconi anemia, ichthyosis, and dysmorphia is poor . Indeed, all the children die around the age of six months as a result of dehydration , acidosis , and severe infections such as septicemia , despite treatments consisting of administering bicarbonates and rehydration (supplementation of fluids and minerals).