Literature DB >> 22859335

[Unusual branchial arch, dermoepidermal and nervous system anomalies in a neonate with VACTERL-H syndrome].

Víctor M Salinas-Torres1, Martha E Ramos-Márquez, Leticia Serra-Ruiz, Eusebio Angulo-Castellanos.   

Abstract

VACTERL-H syndrome is a complex disorder of congenital malformations that implies vertebrae, anus, heart, trachea, esophagus, kidneys, limbs and hydrocephalus. Its etiology has been identified in a fraction of patients largely due to their sporadic nature and its high degree of clinical heterogeneity. This report presents a newborn with VACTERL-H syndrome, associated with unusual branchial arch, dermoepidermal and nervous system anomalies, which are compared with those described in the medical literature. Based on our experience, the presentation of this case not only expands the knowledge of the spectrum of anomalies that can occur in VACTERL-H syndrome, but also can be useful in identifying patients with this heterogeneous phenotype.

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Year:  2012        PMID: 22859335     DOI: 10.5546/aap.2012.e67

Source DB:  PubMed          Journal:  Arch Argent Pediatr        ISSN: 0325-0075            Impact factor:   0.635


  1 in total

1.  Clinical, cytogenetic, environmental and inheritance findings in Mexican neonates with VACTERL association.

Authors:  Victor M Salinas-Torres; Nicolás Pérez-García; Guillermo Pérez-García
Journal:  Indian J Pediatr       Date:  2014-07-11       Impact factor: 1.967

  1 in total

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