title: Clinical, cytogenetic, environmental and inheritance findings in Mexican neonates with VACTERL association.
abstract: In this series the authors evaluate clinical, cytogenetic, environmental and inheritance characteristics of neonates with VACTERL association. Twenty-six patients were diagnosed with VACTERL association and had a normal somatometric profile. Fifty-eight percent cases were males. The frequency of each component was: vertebral defects (V), 77 %; anal atresia (A), 62 %; tracheo-esophageal fistula/esophageal atresia (TEF/EA), 58 %; renal anomalies (R), 58 %; limb abnormalities (L), 50 %, and cardiac malformations (C), 42 %. The most frequent combination was VAR (n = 3). Sixteen patients had non-VACTERL anomalies such as bilateral cryptorchidism (n = 4). Two probands (8 %) had first or second-degree relatives with two components. Five patients (19 %) had environmental factors that interacted with occurrence of VACTERL association. All patients had a normal karyotype. This study contributes to a better characterization of VACTERL phenotype in neonatal period. In spite of predominant sporadic occurrence, underlying genetic susceptibility and environmental influences point to a complex interplay between genes and environmental factors in VACTERL association.
authors.affiliation: Department of Medical Genetics, Civil Hospital of Guadalajara Fray Antonio Alcalde and University of Guadalajara, Hospital No. 278, Col. El Retiro, 44280,, Guadalajara, Jalisco, Mexico, vm_salinas7@hotmail.com.
authors.forename: Victor M
authors.initials: VM
authors.lastname: Salinas-Torres
authors.forename: Nicolás
authors.initials: N
authors.lastname: Pérez-García
authors.forename: Guillermo
authors.initials: G
authors.lastname: Pérez-García
mesh_terms: D001003:Anal Canal / Q000002:abnormalities* / Q000503:physiopathology; D004947:Esophagus / Q000002:abnormalities* / Q000503:physiopathology; D005260:Female; D059647:Gene-Environment Interaction; D020022:Genetic Predisposition to Disease; D006330:Heart Defects, Congenital / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics / Q000503:physiopathology; D006801:Humans; D007231:Infant, Newborn; D040582:Inheritance Patterns; D007621:Karyotyping; D007668:Kidney / Q000002:abnormalities* / Q000503:physiopathology; D017880:Limb Deformities, Congenital / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics / Q000503:physiopathology; D008297:Male; D008800:Mexico / Q000453:epidemiology; D015997:Neonatal Screening / Q000379:methods; D010375:Pedigree; D013131:Spine / Q000002:abnormalities* / Q000503:physiopathology; D063189:Symptom Assessment / Q000379:methods / Q000706:statistics & numerical data; D014132:Trachea / Q000002:abnormalities* / Q000503:physiopathology