Klippel-Feil anomaly in Fanconi anemia.
A boy is described with Fanconi anemia (FA) and Klippel-Feil anomaly. This suggests the diagnosis of FA should be considered in patients with vertebal malformations as well as other suggestive congenital anomalies.
McGaughran
Julie
J
D002648:Child; D005199:Fanconi Anemia / Q000235:genetics / Q000473:pathology*; D006801:Humans; D007714:Klippel-Feil Syndrome / Q000235:genetics / Q000473:pathology*; D008297:Male; D010641:Phenotype; D013131:Spine / Q000002:abnormalities*