Contributions
Abstract: PB1842
Type: Publication Only
Background
Fanconi anemia (FA) is an autosomal recessive genetic chromosomal instability syndrome characterized by congenital malformations, hematological problems and predisposition to malignancies. FA can present a variety of congenital defects but invariably results in defective haemopoiesis, which is the major cause of morbidity and mortality. Numerous congenital abnormalities have been reported in approximately 75% of patients with FA, and the most common of these abnormalities are skeletal (radial ray, hip, vertebral bones, rib), skin dyspigmentation, short stature, abnormalities of the eyes (microphthalmi and strabismus), renal and genito-urinary tract abnormalities, microcephaly.
Aims
In this paper, four cases of FA patients between 7-18 ages (3 female and one male) with different skeletal, skin and hematologic abnormalities are presented.
Methods
All 4 cases had microcephaly, skin dyspigmentation, dysmorphic face appearance, There was 1 case with an unusual thumb polydactyly, and the remaining 3 patients had normal fingers. The extra thumb had nail, but no active motion. Thumb polydactyly is a common hand anomaly but its concurrence with FA is a very rare.
Results
Repeated complete blood cell counts indicated persistent mild thrombocytopenia; diepoxibutane and nitrogen mustard induced chromosome breakage testing on lymphocyte cultures were compatible with the FA and levels of fetal hemoglobin were increased in all of the patients.
Conclusion
The disease is a heterogeneous condition that can present with a variety of congenital defects. There have been conflicting reports about the severity and type of congenital malformations of the disease. Although diagnosis of FA should be verified by identification of chromosomal instability. Recognition of the numerous pathologies associated with FA is important in order to diagnose of the syndrome.
Session topic: 12. Bone marrow failure syndromes incl. PNH - Clinical
Keyword(s): Fanconi anemia
Abstract: PB1842
Type: Publication Only
Background
Fanconi anemia (FA) is an autosomal recessive genetic chromosomal instability syndrome characterized by congenital malformations, hematological problems and predisposition to malignancies. FA can present a variety of congenital defects but invariably results in defective haemopoiesis, which is the major cause of morbidity and mortality. Numerous congenital abnormalities have been reported in approximately 75% of patients with FA, and the most common of these abnormalities are skeletal (radial ray, hip, vertebral bones, rib), skin dyspigmentation, short stature, abnormalities of the eyes (microphthalmi and strabismus), renal and genito-urinary tract abnormalities, microcephaly.
Aims
In this paper, four cases of FA patients between 7-18 ages (3 female and one male) with different skeletal, skin and hematologic abnormalities are presented.
Methods
All 4 cases had microcephaly, skin dyspigmentation, dysmorphic face appearance, There was 1 case with an unusual thumb polydactyly, and the remaining 3 patients had normal fingers. The extra thumb had nail, but no active motion. Thumb polydactyly is a common hand anomaly but its concurrence with FA is a very rare.
Results
Repeated complete blood cell counts indicated persistent mild thrombocytopenia; diepoxibutane and nitrogen mustard induced chromosome breakage testing on lymphocyte cultures were compatible with the FA and levels of fetal hemoglobin were increased in all of the patients.
Conclusion
The disease is a heterogeneous condition that can present with a variety of congenital defects. There have been conflicting reports about the severity and type of congenital malformations of the disease. Although diagnosis of FA should be verified by identification of chromosomal instability. Recognition of the numerous pathologies associated with FA is important in order to diagnose of the syndrome.
Session topic: 12. Bone marrow failure syndromes incl. PNH - Clinical
Keyword(s): Fanconi anemia