Document Detail


Prenatal diagnosis of Meckel-Gruber syndrome and Dandy-Walker malformation in four consecutive affected siblings, with the fourth one being diagnosed prenatally at 22 weeks of gestation.
MedLine Citation:
PMID:  15503488     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
We report a 23-week-old male fetus affected by Meckel-Gruber syndrome. Posterior encephalocele, post-axial polydactyly, and Dandy-Walker malformation were observed on ultrasonographic (USG) examination at 22 weeks' gestation, and lobar holoprosencephaly was demonstrated on postmortem magnetic resonance imaging (MRI) prior to autopsy. After the termination of the pregnancy, polycystic dysplastic kidneys were also noted at postmortem investigation. The proband was the product of the fourth pregnancy of a consanguineous family in which all three siblings were also similarly affected. Interestingly, both the two-year-old affected sister and 23-week-old male fetus had Dandy-Walker complex.
Authors:
Sevim Balci; Fulya Tekşen; Fulya Dökmeci; Bora Cengiz; Ruhi Bariş Cömert; Bilge Can; Sükrü Ozdamar
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  The Turkish journal of pediatrics     Volume:  46     ISSN:  0041-4301     ISO Abbreviation:  Turk. J. Pediatr.     Publication Date:    2004 Jul-Sep
Date Detail:
Created Date:  2004-10-26     Completed Date:  2004-11-30     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  0417505     Medline TA:  Turk J Pediatr     Country:  Turkey    
Other Details:
Languages:  eng     Pagination:  283-8     Citation Subset:  IM    
Affiliation:
Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
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MeSH Terms
Descriptor/Qualifier:
Abnormalities, Multiple / diagnosis*
Adult
Dandy-Walker Syndrome / diagnosis*,  genetics
Encephalocele / genetics*
Female
Humans
Infant, Newborn
Polycystic Kidney Diseases / genetics*
Polydactyly / diagnosis*,  genetics*
Pregnancy
Pregnancy Trimester, Second
Syndrome
Ultrasonography, Prenatal

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


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