Document Detail

Absence of limbs and gross body wall defects: an epidemiological study of related rare malformation conditions.
MedLine Citation:
PMID:  1462250     Owner:  NLM     Status:  MEDLINE    
The study is based on almost 10 million births and reports on 215 infants with two unusual malformations: amelia and gross body wall defect. Amelia without body wall defect was present in 116 cases, 67 had body wall defects without amelia, and 32 had both. The total rate was 2.2 per 100,000 births. The infants were divided into five mutually exclusive groups. There were 40 infants (0.4 per 100,000) with agenesis of the body stalk, 18 with amelia and other types of gross body wall defects (0.2 per 100,000), 56 with amelia and malformations other than gross body wall defects (0.6 per 100,000), 41 with amelia (with or without other limb reduction defects) but no nonlimb malformations (0.4 per 100,000), and 60 infants with gross body wall defects of a type other than agenesis of body stalk and without amelia (0.6 per 100,000). A weak trend of decreasing prevalence of these malformations was found during the observation period. Infants with agenesis of the body stalk and infants with amelia combined with other types of gross body wall defects occurred at an increased rate in infants of young women. This maternal age effect is also found with gastroschisis, but not with omphalocele, and may indicate etiological or pathogenetic similarities between gastroschisis and the two former groups of defect. In infants with amelia, additional limb reduction defects could be of any type: transverse, longitudinal, or intercalary. Therefore, amelia may be the end result of different types of disturbances of limb morphogenesis. There was an increased rate of twinning. The relationship with amniotic band syndrome is discussed.
P Mastroiacovo; B Källén; L B Knudsen; P A Lancaster; E E Castilla; O Mutchinick; E Robert
Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Teratology     Volume:  46     ISSN:  0040-3709     ISO Abbreviation:  Teratology     Publication Date:  1992 Nov 
Date Detail:
Created Date:  1993-01-12     Completed Date:  1993-01-12     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  0153257     Medline TA:  Teratology     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  455-64     Citation Subset:  IM    
IPIMC, Servizio Epidemiologia e Clinica Difetti Congeniti, Rome, Italy.
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MeSH Terms
Abdominal Muscles / abnormalities*
Abnormalities, Multiple / epidemiology
Diseases in Twins / epidemiology
Ectromelia / epidemiology*
Epidemiologic Factors
Infant, Newborn
Maternal Age
Sex Factors
Time Factors

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

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