医
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骨髓象改变、骨骼停止发育、小眼球、小头、智力减低、造血功能障碍、网状色素沉着斑
Congenital aplastic anemia, also called Fanconi anemia, is an autosomal recessive hereditary disease characterized by pancytopenia accompanied by multiple congenital malformations.
Pancytopenia; anemia; bleeding; infection; physical malformations; skin hyperpigmentation; short stature; renal/thumb anomalies
DNA-repair gene mutations (FANC genes) cause chromosomal instability, progressive marrow failure, and elevated risk of leukemia and solid tumors.
Supportive care; androgens; hematopoietic-stem-cell transplant; gene therapy
Genetic counseling; early screening; surveillance for malignancies.
It is recommended to visit the Hematology department; an appointment can be booked on this platform before the visit.
Warm reminder: The above information is for health science reference only and cannot replace professional medical diagnosis. If you have related symptoms, please seek medical attention at a regular hospital promptly.
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