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Pseudodiastrophic dysplasia type Burgio in a newborn
R Fischetto1, F Causio, G Corso
1Divisione Malattie Metaboliche-Genetica Medica, Ospedale Regionale Pediatrico Giovanni XXIII, Bari, Italy.
American Journal of Medical Genetics
|August 8, 1997
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.