Document Detail

Associated malformations in patients with anorectal anomalies.
MedLine Citation:
PMID:  17572165     Owner:  NLM     Status:  MEDLINE    
Patients with congenital anorectal malformations (ARM) often have other associated congenital defects. The reported incidence and the types of associated malformations vary between different studies. The purpose of this investigation was to assess the prevalences at birth of associated malformations in patients of a geographically defined population with ARM which were collected between 1979 and 2003 in 334, 262 consecutive births. Of the 174 patients with ARM during the study period, 49.4% had associated malformations. Patients with associated malformations were further classified into groups with nonsyndromic multiple congenital anomalies; chromosomal abnormalities; nonchromosomal syndromes including Townes-Brocks, Walker-Warburg, Ivemark, Fetal alcohol, Klippel-Feil, Pallister-Hall, Facio-auriculo-vertebral spectrum, deletion 22q11.2; sequences, including OEIS, Pierre Robin and sirenomelia; and associations including VATER and MURCS. Malformations of the urogenital system (81.1%) and of the skeletal system (45.5%) were the most common other congenital anomalies occurring with ARM in multiply malformed patients without recognized entities, followed by malformations of the cardiovascular system, the digestive system, and the central nervous system. Weight, length, and head circumference of children with ARM and multiple associated malformations were lower than in controls, as was the weight of the placenta. Prenatal detection by fetal ultrasonographic examination was rarely made in isolated ARM. However, even in multiple associated malformations, prenatal detection by fetal ultrasonographic examination had a low sensitivity, 36%. In conclusion the overall prevalence of malformations, which was close to 1 in two infants, emphasizes the need for a thorough investigation of patients with ARM. A routine screening for other malformations may be considered in patients with ARM, and genetic counseling seems warranted in most of these complicated cases.
C Stoll; Y Alembik; B Dott; M P Roth
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Publication Detail:
Type:  Journal Article     Date:  2007-05-05
Journal Detail:
Title:  European journal of medical genetics     Volume:  50     ISSN:  1769-7212     ISO Abbreviation:  Eur J Med Genet     Publication Date:    2007 Jul-Aug
Date Detail:
Created Date:  2007-07-20     Completed Date:  2007-09-20     Revised Date:  2008-05-28    
Medline Journal Info:
Nlm Unique ID:  101247089     Medline TA:  Eur J Med Genet     Country:  Netherlands    
Other Details:
Languages:  eng     Pagination:  281-90     Citation Subset:  IM    
Laboratoire de Genetique Medicale, Faculté de Médecine, 11 rue Humann, 67085 Strasbourg Cedex, France.
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MeSH Terms
Abnormalities, Multiple / diagnosis,  epidemiology*
Anal Canal / abnormalities*
Anus Diseases / complications*,  congenital,  epidemiology
Anus, Imperforate
Infant, Newborn
Rectal Diseases / complications*,  congenital,  epidemiology
Rectum / abnormalities*

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