Ontology highlight
ABSTRACT:
SUBMITTER: Alter BP
PROVIDER: S-EPMC3638782 | biostudies-literature | 2013 Feb
REPOSITORIES: biostudies-literature
Molecular syndromology 20130201 1-2
Patients with Fanconi anemia (FA) often have birth defects that suggest the diagnosis of VATER association. A review of 2,245 cases of FA reported in the literature from 1927 to 2012 identified 108 cases with at least 3 of the defining features of VATER association; only 29 had been so noted by the authors. The FA VATER signature was the significantly higher frequency of renal and limb (radial and/or thumb) anomalies (93% of cases had both) compared with less than 30% of VATER patients; the pres ...[more]