Genetic Disorders, Skeletal Dysplasias & Malformations

Fanconi Anaemia

Autosomal recessive
Pancytopenia at 6-7 years of age in male & 8-9 years of age in female
- First – thrombocytopenia
- Second – granulocytopenia
- Third anemia

Treatment

Steroids & androgens cause remission
Transfusion is supportive
Leukemia may develop occasionally & ↑ chance with bone marrow transplant

Associations

Low birth weight
Short trunk
Café au lait spots
Radial deficiency
Thumb hypoplasia
Klippel Feil
Sprengel’s
Syndactyly
Mental retardation
Ear malformation