Document Detail

Fibrochondrogenesis: Prenatal diagnosis and outcome.
MedLine Citation:
PMID:  24127948     Owner:  NLM     Status:  In-Data-Review    
We studied 20 cases with fibrochondrogenesis (FCG) diagnosed prenatally. Four cases were diagnosed at our fetal unit, and 16 cases were identified through a review of literature (in English). The prenatal diagnosis of FCG was made in 4/20 (20%). Six (30%) patients opted for termination of pregnancy (TOP). A total of 13 cases delivered at term. Four (30.8%) had a caesarean section. Four neonates (30.7%) were stillborn and seven (53.8%) neonates died within 3 months. Two infants survived beyond 3 years of age, but both had severe global developmental delay. A molecular study of the surviving children revealed two null homozygous mutations in COL11A1 [c.4084C > T (p.R1362X) and c.3708 + c.437T > G]. We concluded that the prenatal diagnosis of fibrochondrogenesis is feasible. Fibrochondrogenesis is usually a fatal disease and survivors suffer from severe physical and neurological impairment.
G N Bekdache; M A Begam; F Chedid; L Al-Gazali; H Mirghani
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Journal of obstetrics and gynaecology : the journal of the Institute of Obstetrics and Gynaecology     Volume:  33     ISSN:  1364-6893     ISO Abbreviation:  J Obstet Gynaecol     Publication Date:  2013 Oct 
Date Detail:
Created Date:  2013-10-16     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  8309140     Medline TA:  J Obstet Gynaecol     Country:  England    
Other Details:
Languages:  eng     Pagination:  663-8     Citation Subset:  IM    
Fetal Medicine Unit, Department of Obstetrics and Gynecology.
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