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 malformati...

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Bibliographic Details
Published inAmerican journal of medical genetics Vol. 71; no. 2; p. 222
Main Authors Fischetto, R, Causio, F, Corso, G, Lillo, V, Natale, B, Papadia, F
Format Journal Article
LanguageEnglish
Published United States 08.08.1997
Subjects
Bone Diseases, Developmental - congenital
Bone Diseases, Developmental - diagnostic imaging
Fatal Outcome
Female
Heart Defects, Congenital
Hernia, Umbilical
Humans
Infant, Newborn
Joint Dislocations
Radiography
Syndrome
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Summary: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.
ISSN:0148-7299
DOI:10.1002/(SICI)1096-8628(19970808)71:2<222::AID-AJMG20>3.0.CO;2-F