Document Detail


First-trimester diagnosis of Blomstrand lethal osteochondrodysplasia.
MedLine Citation:
PMID:  9415697     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Blomstrand chondrodysplasia is a rare lethal skeletal dysplasia with presumed autosomal-recessive inheritance. A family with 2 affected fetuses was studied. One fetus demonstrated a severe skeletal dysplasia at routine transabdominal ultrasound examination at 18.5 weeks of gestation. The pregnancy was terminated and the diagnosis of Blomstrand chondrodysplasia was made at autopsy. A second affected fetus was identified by first-trimester transvaginal ultrasound at 12 weeks of gestation. In this case the diagnosis was confirmed by posttermination radiography and histopathology. From these observations, Blomstrand chondrodysplasia seems like a lethal rhizo/mesomelic short-limb, early-onset dysplasia with autosomal-recessive inheritance. Easy detectability by transvaginal ultrasound is demonstrated, but general applicability awaits further studies on the intra- and interfamilial variability of this disorder.
Authors:
N S den Hollander; H J van der Harten; C Vermeij-Keers; M F Niermeijer; J W Wladimiroff
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  American journal of medical genetics     Volume:  73     ISSN:  0148-7299     ISO Abbreviation:  Am. J. Med. Genet.     Publication Date:  1997 Dec 
Date Detail:
Created Date:  1998-01-16     Completed Date:  1998-01-16     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  7708900     Medline TA:  Am J Med Genet     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  345-50     Citation Subset:  IM    
Affiliation:
Department of Obstetrics and Gynecology, Academic Hospital Rotterdam Dijkzigt, The Netherlands.
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MeSH Terms
Descriptor/Qualifier:
Adult
Consanguinity
Female
Fetal Death / genetics,  pathology
Genes, Recessive
Humans
Osteochondrodysplasias / genetics*,  pathology,  ultrasonography
Pregnancy
Pregnancy Trimester, First
Prenatal Diagnosis*

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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