Document Detail


Limb reduction defects in Emilia Romagna, Italy: epidemiological and genetic study in 173,109 consecutive births.
MedLine Citation:
PMID:  2359096     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Epidemiological and genetic variables in limb reduction defects (LRD) were analysed during the years 1978 to 1987 in a case control study in Emilia Romagna, northern Italy. During the observation period, 83 neonates out of 173,109 consecutive births had LRD (4.8 per 10,000). Cases were divided into five subgroups: transverse, intercalary, longitudinal, split, and multiple types of LRD. Of all cases, 64% were upper limb, 21% lower limb, and 15% both. Coexisting non-limb malformations were found in 10 cases (12%), five with recognised syndromes and five with other associated defects. About 7.2% of first degree relatives had defects involving the skeletal system. In two cases the mother had the same type of LRD (a split). No recurrence among sibs was observed. Risk factors correlated with LRD were found to be low birth weight (2500 g or less), vaginal bleeding, and threatened abortion.
Authors:
E Calzolari; D Manservigi; G P Garani; G Cocchi; C Magnani; M Milan
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Journal of medical genetics     Volume:  27     ISSN:  0022-2593     ISO Abbreviation:  J. Med. Genet.     Publication Date:  1990 Jun 
Date Detail:
Created Date:  1990-07-27     Completed Date:  1990-07-27     Revised Date:  2009-11-18    
Medline Journal Info:
Nlm Unique ID:  2985087R     Medline TA:  J Med Genet     Country:  ENGLAND    
Other Details:
Languages:  eng     Pagination:  353-7     Citation Subset:  IM    
Affiliation:
Istituto di Genetica Medica, University of Ferrara, Italy.
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MeSH Terms
Descriptor/Qualifier:
Consanguinity
Humans
Infant, Low Birth Weight
Infant, Newborn
Italy / epidemiology
Karyotyping
Limb Deformities, Congenital*
Prevalence
Registries
Risk Factors
Comments/Corrections

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


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