Fanconi's anemia, medulloblastoma, Wilms' tumor, horseshoe kidney, and gonadal dysgenesis.
An 18-month-old female infant with clinically and cytogenetically documented Fanconi's anemia was found to have two neoplasms previously unreported in this syndrome to our knowledge: a medulloblastoma and a Wilms' tumor, with the latter arising in a horseshoe kidney. An additional feature was pure gonadal dysgenesis. These unusual associations are discussed in the context of certain syndromes suggestive of an axial predisposition for neoplasia (kidneys-central nervous system and kidneys-gonads).
de Chadarévian
J P
JP
Vekemans
M
M
Bernstein
M
M
D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology; D000741:Anemia, Aplastic / Q000473:pathology*; D002528:Cerebellar Neoplasms / Q000235:genetics; D005199:Fanconi Anemia / Q000235:genetics / Q000473:pathology*; D005260:Female; D006059:Gonadal Dysgenesis / Q000473:pathology*; D006801:Humans; D007223:Infant; D007668:Kidney / Q000002:abnormalities*; D007680:Kidney Neoplasms / Q000235:genetics; D008527:Medulloblastoma / Q000235:genetics; D008831:Microcephaly / Q000473:pathology; D009378:Neoplasms, Multiple Primary / Q000235:genetics* / Q000473:pathology; D013577:Syndrome; D009396:Wilms Tumor / Q000235:genetics