X ‐linked VACTERL‐H Caused by Deletion of Exon 3 in FANCB: A Case Report

Abstract VACTERL is a congenital malformation characterized by vertebral defects (V), anal atresia (A), cardiac malformation (C), tracheoesophageal fistula (T), esophageal atresia (E), radial or renal dysplasia (R), and limb abnormalities (L) (McCauley et al. 2011). An association of VACTERL with ventriculomegaly or clinical hydrocephalus, known as VACTERL‐H, was reported to have poor prognosis. Here, we report a case of VACTERL‐H with an X‐linked family history and a deleted exon 3 in FANCB.
Source: Congenital Anomalies - Category: Genetics & Stem Cells Authors: Tags: Note Source Type: research