Rosenberg et al identified congenital abnormalities in Fanconi anemia associated with bone marrow failure. The authors are from the National Cancer Institute at NIH and Johns Hopkins University.


Congenital abnormalities:

(1) abnormal or absent radial ray (RAD)

(2) developmental delay

(3) cardiopulmonary abnormality

(4) absent or abnormal kidney (ectopic, horseshoe, pelvic, other)

(5) deafness or abnormal hearing

(6) abnormal head (microcephaly, other)

(7) short stature (< 10%)

(8) abnormal lower extremities (dislocated hips, other)

(9) absent or abnormal thumbs

(10) other skeletal abnormalities









CABS10 = score for 10 congenital abnormalities =

= SUM(points for all 10 phenotypic features)



= (points for developmental delay) + (points for cardiopulmonary abnormality) + (points for abnormal kidney) + (points for deafness or abnormal hearing) + (points for abnormal head)


cumulative relative hazard for bone marrow failure based on CABS =

= (1.23)^(CABS)



• minimum CABS10: 0

• maximum CABS10: 10

• minimum CABS: 0

• maximum CABS: 5

• The most important factor for predicting bone marrow failure was abnormal or absent radial ray (RAD), which had a relative hazard of 3.6.

• The maximum risk for bone marrow failure based on CABS was 2.8.

• RAD and CABS can be used to stratify patients for risk of bone marrow failure, with lowest risk RAD and CABS 0 and with highest risk RAD 1 and CABS 5.

• A patient who developed bone marrow failure early was less likely to survive long enough to develop other complications such as solid tumor or AML. Therefore a person with low risk of bone marrow failure was at greater risk for other complications.


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