title: Neonate with VACTERL Association and a Branchial Arch Anomaly without Hydrocephalus.
abstract: VACTERL (vertebral anomalies, anal atresia, cardiac defect, tracheoesophageal fistula, renal anomaly, limb anomalies) is an association of anomalies with a wide spectrum of phenotypic expression. While the majority of cases are sporadic, there is evidence of an inherited component in a small number of patients as well as the potential influence of nongenetic risk factors (maternal diabetes mellitus). Presence of hydrocephalus has been reported in VACTERL patients (VACTERL-H) in the past, with some displaying branchial arch anomalies. We report the unique case of an infant of diabetic mother with VACTERL association and a branchial arch anomaly-in the absence of hydrocephalus.
authors.affiliation: Division of Neonatology, Department of Pediatrics, Albert Einstein College of Medicine, Children's Hospital at Montefiore, Bronx, New York.
authors.forename: Danitza
authors.initials: D
authors.lastname: Velazquez
authors.affiliation: Division of Genetics, Department of Pediatrics, Albert Einstein College of Medicine, Children's Hospital at Montefiore, Bronx, New York.
authors.forename: Elaine
authors.initials: E
authors.lastname: Pereira
authors.affiliation: Division of Neonatology, Department of Pediatrics, Albert Einstein College of Medicine, Children's Hospital at Montefiore, Bronx, New York.
authors.forename: Thomas
authors.initials: T
authors.lastname: Havranek
keywords: VACTERL association; branchial arch anomaly; infant of diabetic mother; neonate