… Additionally, we did not find any congenital abnormalities related to the VACTERL-H
association in a pedigree analysis based on interviews (Figure 13). In previous case reports, the …

… ARM have a high prevalence of associated congenital anomalies ranging from 34 % to
70 %, with … These anomalies can present isolated, as part of the VACTERL-association (vertebral, …

… We propose CDX2 variants as rare genetic cause for a multiple congenital anomaly syndrome
that can include features of caudal regression syndrome and VACTERL. A causative role …

… to frequently observed patterns of malformations like VACTERL (vertebral defects, anal atresia,
… Fetal alcohol spectrum disorder is an umbrella term used to describe the whole range of …

… Anorectal malformations (ARMs) are a spectrum of congenital … Patients with an associated
congenital anomaly are less likely to be missed4 5—reflecting the association of VACTERL …

… at the mild end of the spectrum. Heterotaxy is thought to represent up to 7% of patients with
… of anomalies is consistent solely with a VACTERL association may miss laterality defects …

… of congenital malformations in humans. LoF WBP11 variants should be considered as a
possible cause of VACTERL association as well as isolated Klippel-Feil syndrome, renal …

… Beyond the well-known OAV spectrum malformations, some specific anomalies must be
systematically considered due to their prevalence in this population, such as hemifacial …

… (n = 2) and an atrioventricular septal defect (n = 1) were diagnosed. One of them showed
multiple ECAs, being classified as a VACTERL association in the postnatal course. One other …

… study suggested that the phenotypic spectrum of vertebral anomalies, anal atresia, cardiac
defects, … The co-occurrence of the VACTERL association and Mϋllerian duct defects has been …