Document Detail

Dyssegmental dysplasia in siblings: prenatal ultrasonic diagnosis.
MedLine Citation:
PMID:  3282308     Owner:  NLM     Status:  MEDLINE    
Two cases of dyssegmental dysplasia (type Silverman-Handmaker) in siblings are presented. The first-born died at the age of 3 months and the second fetus was followed during pregnancy with ultrasound examinations. In the 20th week of gestation marked shortening of the extremities was found; a female infant showing the same radiologic bony malformations as the firstborn was born by cesarean section. These cases support the autosomal recessive inheritance and demonstrate the possibility of prenatal diagnosis in this type of micromelic dwarfism.
P E Andersen; M Hauge; J Bang
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Skeletal radiology     Volume:  17     ISSN:  0364-2348     ISO Abbreviation:  Skeletal Radiol.     Publication Date:  1988  
Date Detail:
Created Date:  1988-05-16     Completed Date:  1988-05-16     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  7701953     Medline TA:  Skeletal Radiol     Country:  GERMANY, WEST    
Other Details:
Languages:  eng     Pagination:  29-31     Citation Subset:  IM    
Department of Diagnostic Radiology, Odense University Hospital, Denmark.
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MeSH Terms
Bone Diseases, Developmental / diagnosis,  genetics*
Dwarfism / diagnosis*,  genetics
Fetal Diseases / diagnosis*,  genetics
Infant, Newborn
Pregnancy Trimester, Third
Prenatal Diagnosis*

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