3 Questions
Which of the following is a possible congenital defect of the skeleton in Fanconi anaemia?
Absent radii
What percentage of males with Fanconi anaemia may have hypogonadism/hypospadias?
25%
What is the most common clinical representation of Fanconi anaemia?
Congenital malformations
How well do you know the clinical representations of Fanconi anaemia? Test your knowledge with this quiz! Identify the common symptoms and congenital malformations associated with this genetic disorder, such as growth retardation, microcephaly, and hypoplastic thumbs. Learn about the prevalence of skin pigmentation abnormalities and VACTERL abnormalities in individuals with Fanconi anaemia. This quiz is perfect for medical students, healthcare professionals, and anyone interested in genetics and rare diseases.
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