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AJP Rep 2016; 06(01): e74-e76
DOI: 10.1055/s-0035-1566297
Case Report
Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

Neonate with VACTERL Association and a Branchial Arch Anomaly without Hydrocephalus

Danitza Velazquez
1   Division of Neonatology, Department of Pediatrics, Albert Einstein College of Medicine, Children's Hospital at Montefiore, Bronx, New York
,
Elaine Pereira
2   Division of Genetics, Department of Pediatrics, Albert Einstein College of Medicine, Children's Hospital at Montefiore, Bronx, New York
,
Thomas Havranek
1   Division of Neonatology, Department of Pediatrics, Albert Einstein College of Medicine, Children's Hospital at Montefiore, Bronx, New York
› Author Affiliations
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Publication History

22 July 2015

29 September 2015

Publication Date:
02 November 2015 (online)

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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.

Keywords

VACTERL association - neonate - branchial arch anomaly - infant of diabetic mother
 

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