Neonate with VACTERL Association and a Branchial Arch Anomaly without Hydrocephalus

Autor: Danitza Velazquez, Elaine Pereira, Thomas Havranek
Jazyk: angličtina
Rok vydání: 2016
Předmět:
Zdroj: American Journal of Perinatology Reports, Vol 06, Iss 01, Pp e74-e76 (2016)
Druh dokumentu: article
ISSN: 2157-6998
2157-7005
DOI: 10.1055/s-0035-1566297
Popis: 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.
Databáze: Directory of Open Access Journals