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 …

VACTERL‐H association includes three of eight features: vertebral anomalies, anal atresia,
congenital heart disease, tracheo‐esophageal fistula, esophageal atresia, renal, limb …

The diagnosis of VACTERL syndrome can be elusive, especially in the prenatal life, due to
the presence of malformations that overlap those present in other genetic conditions …

Fanconi anemia (FA) is a genomic instability syndrome with predisposition to congenital
abnormalities, bone marrow failure, and cancer. Classical and most frequent congenital …

Fanconi anemia (FA) is caused by pathogenic variants in the FA/BRCA DNA repair pathway
genes, and is characterized by congenital abnormalities, bone marrow failure and an …

Background: The VACTERL with hydrocephalus (VACTERL-H) phenotype is recognised to
be a severe manifestation of autosomal recessive Fanconi anaemia. Several families have …

Fanconi anemia (FA) is an inherited bone marrow failure syndrome caused by mutations in
DNA repair genes; some of these patients may have features of the VACTERL association …

Purpose Patients with Fanconi anaemia (FA), a rare DNA repair genetic disease, exhibit
chromosome fragility, bone marrow failure, malformations and cancer susceptibility. FA …

Fanconi anemia (FA) is a rare genetic instability syndrome characterized by developmental
defects, bone marrow failure, and a high cancer risk. Fifteen genetic subtypes have been …

Abstract Background Features of Fanconi anemia (FA) are well known, including bone
marrow failure, congenital anomalies such as radial anomalies, renal and ear anomalies …