title: Escobar syndrome with heterotaxia and esophageal atresia: case report.
abstract: Escobar syndrome (ES) or multiple pterygia syndrome (MIM#265000) is an infrequent condition characterized by facial dysmorphism, multiple webbing (pterygia), congenital contractures (arthrogryposis) and other internal anomalies. We describe an 8-days-old male newborn from consanguineous parents with ES who also presented heterotaxia syndrome and esophageal atresia, anomalies that not have been previously reported as associated to ES.
authors.forename: L E
authors.initials: LE
authors.lastname: Martínez-Barrera
authors.forename: V F
authors.initials: VF
authors.lastname: Morán-Barroso
authors.forename: M
authors.initials: M
authors.lastname: Perezpeña-Díazconti
authors.forename: F G
authors.initials: FG
authors.lastname: Zuñiga-Rodríguez
authors.forename: C
authors.initials: C
authors.lastname: Manzano-Sierra
authors.forename: C
authors.initials: C
authors.lastname: García-Delgado
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics* / Q000473:pathology; D003241:Consanguinity; D004933:Esophageal Atresia / Q000175:diagnosis* / Q000235:genetics* / Q000473:pathology; D017809:Fatal Outcome; D005333:Fetus / Q000473:pathology; D005838:Genotype; D059446:Heterotaxy Syndrome / Q000175:diagnosis* / Q000235:genetics* / Q000473:pathology; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D008305:Malignant Hyperthermia / Q000175:diagnosis* / Q000235:genetics* / Q000473:pathology; D010375:Pedigree; D010641:Phenotype; D012868:Skin Abnormalities / Q000175:diagnosis* / Q000235:genetics* / Q000473:pathology