Pseudodiastrophic dysplasia type Burgio in a newborn.
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.
Fischetto
R
R
Divisione Malattie Metaboliche-Genetica Medica, Ospedale Regionale Pediatrico Giovanni XXIII, Bari, Italy.
Causio
F
F
Corso
G
G
Lillo
V
V
Natale
B
B
Papadia
F
F
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