Fanconi's anaemia and unilateral thumb polydactyly--don't miss it.

Abstract excerpt

Fanconi's anaemia (FA) is a rare, life threatening inherited syndrome. Patients usually present late in the first decade of life with aplastic anaemia or acute myeloid leukaemia. FA children are also at high risk of solid organ tumours, anogenital squamous cancers, and endocrinopathies. These patients can present with unilateral radial abnormalities including thumb duplication. Hand surgeons can help achieve...

Topics

• Abnormalities, Multiple
• Child
• Child, Preschool
• Comorbidity
• Diagnosis, Differential
• Diagnostic Errors
• Early Diagnosis
• Fanconi Anemia
• Female
• Follow-Up Studies
• Genetic Counseling