title: [Unusual branchial arch, dermoepidermal and nervous system anomalies in a neonate with VACTERL-H syndrome].
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.
authors.affiliation: Servicio de Genética Médica, Hospital Civil Fray Antonio Alcalde, Guadalajara, Jalisco, México. vm_salinas7@hotmail.com
authors.forename: Víctor M
authors.initials: VM
authors.lastname: Salinas-Torres
authors.forename: Martha E
authors.initials: ME
authors.lastname: Ramos-Márquez
authors.forename: Leticia
authors.initials: L
authors.lastname: Serra-Ruiz
authors.forename: Eusebio
authors.initials: E
authors.lastname: Angulo-Castellanos
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis*; D018376:Cardiovascular Abnormalities / Q000175:diagnosis*; D004065:Digestive System Abnormalities / Q000175:diagnosis*; D017809:Fatal Outcome; D040181:Genetic Diseases, X-Linked / Q000175:diagnosis*; D006801:Humans; D006849:Hydrocephalus / Q000175:diagnosis*; D007231:Infant, Newborn; D008297:Male; D009139:Musculoskeletal Abnormalities / Q000175:diagnosis*; D010641:Phenotype