Document Detail

Pseudodiastrophic dysplasia evolution with age and management. Report of two new cases and review of the literature.
MedLine Citation:
PMID:  2288456     Owner:  NLM     Status:  MEDLINE    
Two new patients with pseudodiastrophic dysplasia are reported. Clinical and radiologic features, genetics, as well as, course and management of the disease are described for these two patients and seven others reported in the literature. Based also on histological findings, special emphasis is put on differential diagnosis with diastrophic dysplasia.
N Canki-Klain; V Stanescu; P Bebler; P Maroteaux
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Review    
Journal Detail:
Title:  Annales de génétique     Volume:  33     ISSN:  0003-3995     ISO Abbreviation:  Ann. Genet.     Publication Date:  1990  
Date Detail:
Created Date:  1991-03-28     Completed Date:  1991-03-28     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  0370562     Medline TA:  Ann Genet     Country:  FRANCE    
Other Details:
Languages:  eng     Pagination:  129-36     Citation Subset:  IM    
Department of Gynecology and Obstetrics, University Medical Center of Ljubljana, Zaloska, Yugoslavia.
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MeSH Terms
Abnormalities, Multiple / diagnosis,  genetics,  pathology*
Cleft Palate
Diagnosis, Differential
Dwarfism / diagnosis,  genetics,  pathology*,  radiography
Genes, Recessive
Growth Plate / pathology
Infant, Newborn
Limb Deformities, Congenital
Scoliosis / congenital
Spine / abnormalities

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