title: Pseudodiastrophic dysplasia type Burgio in a newborn.
abstract: Pseudodiastrophic dysplasia is a distinct disorder that differs from diastrophic dysplasia on the basis of elbow and proximal interphalangeal joint dislocations, platyspondyly, and scoliosis. We report on a new patient with this rare skeletal dysplasia and two previously undescribed major malformations: omphalocele and complex heart defect.
authors.affiliation: Divisione Malattie Metaboliche-Genetica Medica, Ospedale Regionale Pediatrico Giovanni XXIII, Bari, Italy.
authors.forename: R
authors.initials: R
authors.lastname: Fischetto
authors.forename: F
authors.initials: F
authors.lastname: Causio
authors.forename: G
authors.initials: G
authors.lastname: Corso
authors.forename: V
authors.initials: V
authors.lastname: Lillo
authors.forename: B
authors.initials: B
authors.lastname: Natale
authors.forename: F
authors.initials: F
authors.lastname: Papadia
mesh_terms: D001848:Bone Diseases, Developmental / Q000151:congenital* / Q000000981:diagnostic imaging; D017809:Fatal Outcome; D005260:Female; D006330:Heart Defects, Congenital; D006554:Hernia, Umbilical; D006801:Humans; D007231:Infant, Newborn; D004204:Joint Dislocations; D011859:Radiography; D013577:Syndrome