PSEUDODIASTROPHIC DYSPLASIA TYPE BURGIO IN A NEWBORN

Authors
FISCHETTO R CAUSIO F CORSO G LILLO V NATALE B PAPADIA F
Citation
R. Fischetto et al., PSEUDODIASTROPHIC DYSPLASIA TYPE BURGIO IN A NEWBORN, American journal of medical genetics, 71(2), 1997, pp. 222-225
Citations number
6
Categorie Soggetti
Genetics & Heredity
Journal title
American journal of medical genetics → ACNP
ISSN journal
01487299
Volume
71
Issue
2
Year of publication
1997
Pages
222 - 225
Database
ISI
SICI code
0148-7299(1997)71:2<222:PDTBIA>2.0.ZU;2-5
Abstract
Pseudodiastrophic dysplasia is a distinct disorder that differs from d iastrophic dysplasia on the basis of elbow and proximal interphalangea l joint dislocations, platyspondyly, and scoliosis. We report on a new patient with this rare skeletal dysplasia and two previously undescri bed major malformations: omphalocele and complex heart defect. (C) 199 7 Wiley-Liss, Inc.