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Pseudodiastrophic dysplasia type Burgio in a newborn

✍ Scribed by Fischetto, R.; Causio, F.; Corso, G.; Lillo, V.; Natale, B.; Papadia, F.


Publisher
John Wiley and Sons
Year
1997
Tongue
English
Weight
29 KB
Volume
71
Category
Article
ISSN
0148-7299
DOI
10.1002/(sici)1096-8628(19970808)71:2<222::aid-ajmg20>3.0.co;2-f

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✦ Synopsis


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:


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