Fanconi's Anaemia with Hydrocephalus and Thyroid Abnormality

Abstract
A case is desribed of Franconi''s anemia in a girl who suffered from dwarfism due to congenital hypoplasia of the pituitary and from other congenital malformations. The pancytopenia manifested itself at the age of 2 years and was resistant to a combined corticosteroid-testosterone treatment. Unusual findings in this case were congenital hydrocephalus, hypoplastic spleen, and hypoplasia of thyroid together with persistently high PBI serum levels but without apparent changes in thyroid function.