- rare chromosomal breakage syndrome
- skeletal anomalies
- the major hematologic risk is development
of leukemia and other malignancies.
- Only mild anemia is typical.
Several other disorders are associated with
skeletal anomalies and hematologic disease.
- Fanconi's Anemia (no thumb or
- Dyskeratosis Congenita
(skin and nail changes)
- TAR syndrome (thrombocytopenia, absent
radius, thumbs present)
- Bloom syndrome (predisp to leukemia, malignancies)
- Other rare disorders associated with both
skeletal anomalies and hematologic disorders include
- familial aplastic anemia syndromes
- cartilage-hair hypoplasia
- Dubowitz syndrome
- Seckel syndrome
- Poland syndrome
- Acquired disorders also may be associated
with both hematologic and
skeletal abnormalities. Children who have newly diagnosed acute lymphoblastic
leukemia often present with bone pain and generalized radiologic signs, but
they do not have congenital abnormalities.
Alter BP, Young NS. The bone marrow failure syndromes. In: Nathan DG,
Orkin SH, Oski FA, Ginsburg D, eds. Nathan and Oski's Hematology of
Infancy and Childhood. 5th ed. Philadelphia, Pa: WB Saunders Co; 1998:
Freedman MH. Inherited forms of bone marrow failure. In: Hoffman R,
Benz EJ Jr, Shattil SJ, et al, eds. Hematology: Basic Principles and
Practice. 3rd ed. New York, NY: Churchill Livingstone; 2000:260-297