Document Detail

The thanatophoric dwarf. A report on two cases.
MedLine Citation:
PMID:  948574     Owner:  NLM     Status:  MEDLINE    
Two cases of thanatophoric dwarfism are presented. At external physical examination this anomaly is not readily distinguishable from achondroplasia and other forms of congenital disproportionate dwarfism. Radiologically, however, characteristic skeletal changes are demonstrable. The diagnosis can be made in utero. The clinical course is invariably fatal. The hereditary aspects, of importance for genetic counseling of parents, are still unexplained. The patients discussed show the typical thanatophoric skeletal changes in combination with a form of synostosis, i.e. bilateral radioulnar synostosis in one case, and synostosis of the coronal sutures and the lambdoid suture in the other. Emphasis is placed on the importance of radiological examination in cases of unexplained hydramnion and perinatal death.
C R Staalman
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Radiologia clinica     Volume:  45     ISSN:  0376-6748     ISO Abbreviation:  Radiol Clin (Basel)     Publication Date:  1976  
Date Detail:
Created Date:  1976-10-01     Completed Date:  1976-10-01     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  7513002     Medline TA:  Radiol Clin (Basel)     Country:  SWITZERLAND    
Other Details:
Languages:  eng     Pagination:  242-50     Citation Subset:  IM    
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MeSH Terms
Dwarfism / congenital,  radiography*
Infant Mortality*
Infant, Newborn
Infant, Premature, Diseases / radiography*

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