Document Detail


Diagnosis of skeletal dysplasia by multidisciplinary assessment: a report of two cases of thanatophoric dysplasia.
MedLine Citation:
PMID:  11851976     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Skeletal dysplasias, a heterogeneous group of bone growth disorders, can be detected by routine prenatal ultrasound examination. As it is difficult to make a specific diagnosis, prediction of prognosis is of importance for obstetric management. In order to specify diagnosis, radiological, pathological and molecular genetic examination are often required. Our report describes two cases of thanatophoric dysplasia with different fetal sonographic findings. The classical classification of type I and II seems to be ambiguous as, in both cases, the same mutation in the fibroblast growth factor receptor 3 gene was found. The importance of comprehensive multidisciplinary assessment is emphasized.
Authors:
N Kölble; D Sobetzko; J Ersch; T Stallmach; G Eich; R Huch; A Huch; A Superti-Furga; J Wisser
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology     Volume:  19     ISSN:  0960-7692     ISO Abbreviation:  Ultrasound Obstet Gynecol     Publication Date:  2002 Jan 
Date Detail:
Created Date:  2002-02-19     Completed Date:  2002-03-15     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  9108340     Medline TA:  Ultrasound Obstet Gynecol     Country:  England    
Other Details:
Languages:  eng     Pagination:  92-8     Citation Subset:  IM    
Affiliation:
Unit of Perinatal Physiology, Department of Obstetrics, University Hospital, Zurich, Switzerland. nicole.koeble@fhk.usz.ch
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MeSH Terms
Descriptor/Qualifier:
Adult
Female
Fetal Diseases / genetics,  ultrasonography*
Fibroblast Growth Factor 3
Fibroblast Growth Factors
Humans
Mutation
Pregnancy
Proto-Oncogene Proteins
Receptors, Growth Factor / genetics
Thanatophoric Dysplasia / genetics,  ultrasonography*
Ultrasonography, Prenatal*
Chemical
Reg. No./Substance:
0/FGF3 protein, human; 0/Fibroblast Growth Factor 3; 0/Proto-Oncogene Proteins; 0/Receptors, Growth Factor; 62031-54-3/Fibroblast Growth Factors

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


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