title: Right-sided congenital diaphragmatic hernia, hepatic pulmonary fusion, duodenal atresia, and imperforate anus in an infant.
abstract: We present a case of a neonate with VACTERL-like association, with the VACTERL association defined as the non-random association of vertebral, anal, cardiac, esophageal, renal/kidney, and limb defects, as manifested by a hemivertebra, imperforate anus, and digit anomalies, in rare association with duodenal atresia and right-sided diaphragmatic hernia. This constellation is previously undescribed and may offer insight into the pathogenesis of VACTERL and associated birth defects.
authors.affiliation: Department of Surgery, Children's Hospital Los Angeles, and Keck School of Medicine, University of Southern California, Los Angeles, CA 90027, USA. scastle@chla.usc.edu
authors.forename: Shannon L
authors.initials: SL
authors.lastname: Castle
authors.forename: Bindi J
authors.initials: BJ
authors.lastname: Naik-Mathuria
authors.forename: Manuel B
authors.initials: MB
authors.lastname: Torres
mesh_terms: D000015:Abnormalities, Multiple / Q000473:pathology*; D001003:Anal Canal / Q000002:abnormalities / Q000473:pathology; D001006:Anus, Imperforate / Q000473:pathology; D003456:Cryptorchidism / Q000473:pathology; D004380:Duodenal Obstruction / Q000000981:diagnostic imaging / Q000196:embryology / Q000473:pathology*; D004947:Esophagus / Q000002:abnormalities / Q000473:pathology; D005704:Gallbladder / Q000002:abnormalities; D006330:Heart Defects, Congenital / Q000175:diagnosis / Q000473:pathology*; D006548:Hernia, Diaphragmatic / Q000601:surgery; D065630:Hernias, Diaphragmatic, Congenital; D006801:Humans; D006976:Hypertension, Pulmonary / Q000151:congenital; D007231:Infant, Newborn; D007409:Intestinal Atresia; D007668:Kidney / Q000002:abnormalities / Q000473:pathology; D017880:Limb Deformities, Congenital / Q000175:diagnosis / Q000473:pathology*; D008099:Liver / Q000002:abnormalities / Q000601:surgery; D008159:Lumbar Vertebrae / Q000002:abnormalities; D008168:Lung / Q000002:abnormalities / Q000601:surgery; D008297:Male; D013131:Spine / Q000002:abnormalities / Q000473:pathology; D014132:Trachea / Q000002:abnormalities / Q000473:pathology; D016216:Ultrasonography, Prenatal