Matches in SemOpenAlex for { <https://semopenalex.org/work/W2152318076> ?p ?o ?g. }
Showing items 1 to 92 of
92
with 100 items per page.
- W2152318076 endingPage "1240" @default.
- W2152318076 startingPage "1235" @default.
- W2152318076 abstract "Objective To report our experience of the prenatal diagnosis of X-linked dominant chondrodysplasia punctata (CDPX2) and highlight its variable phenotypic presentation. Methods We report the sonographic features of three female fetuses affected with CDPX2. The ultrasound, radiographic and pathological findings were compared. Results Family 1: Two affected pregnancies, both terminated. Fetus 1: Presented with epiphyseal stippling involving the vertebrae, upper and lower limbs, asymmetric shortening of the long bones and flat facial profile. Fetus 2: Prenatal findings included premature epiphyseal stippling, paravertebral cartilaginous calcific foci, mild shortening of the long bones and flat facies. Mutation analysis of the mother and both fetuses revealed mutation in the emopamil-binding protein (EBP) gene. Family 2: Prenatal sonography showed scattered epiphyseal stippling, minimal vertebral segmentation anomalies, mild asymmetric limb shortening and flat facies. Female infant delivered at 39 weeks of gestation. Biochemical analysis in all three fetuses showed increased levels of serum 8(9)-cholestenol consistent with delta (8), delta (7)-isomerase deficiency and CDPX2. Conclusion Prenatal diagnosis of CDPX2 is difficult because of marked phenotypic variation. Epiphyseal stippling, ectopic paravertebral calcifications, asymmetric shortening of long bones and dysmorphic flattened facies are crucial for prenatal diagnosis. DNA analysis of the CDPX2 gene and biochemical determination of the serum 8(9)-cholestenol level are important for diagnosis, especially if future pregnancies are planned. Copyright © 2006 John Wiley & Sons, Ltd." @default.
- W2152318076 created "2016-06-24" @default.
- W2152318076 creator A5011636981 @default.
- W2152318076 creator A5012342703 @default.
- W2152318076 creator A5045362757 @default.
- W2152318076 creator A5057539981 @default.
- W2152318076 creator A5062068278 @default.
- W2152318076 creator A5072543580 @default.
- W2152318076 creator A5079319076 @default.
- W2152318076 creator A5081684671 @default.
- W2152318076 date "2006-01-01" @default.
- W2152318076 modified "2023-09-26" @default.
- W2152318076 title "X-Linked dominant chondrodysplasia punctata: prenatal diagnosis and autopsy findings" @default.
- W2152318076 cites W1577282977 @default.
- W2152318076 cites W1965083242 @default.
- W2152318076 cites W1966691474 @default.
- W2152318076 cites W1970675383 @default.
- W2152318076 cites W2001638529 @default.
- W2152318076 cites W2018908536 @default.
- W2152318076 cites W2028078139 @default.
- W2152318076 cites W2045950284 @default.
- W2152318076 cites W2053106009 @default.
- W2152318076 cites W2121998095 @default.
- W2152318076 cites W2136060117 @default.
- W2152318076 cites W2136442141 @default.
- W2152318076 cites W2154020189 @default.
- W2152318076 cites W2274366681 @default.
- W2152318076 cites W2302179086 @default.
- W2152318076 cites W2318639397 @default.
- W2152318076 doi "https://doi.org/10.1002/pd.1594" @default.
- W2152318076 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/17086568" @default.
- W2152318076 hasPublicationYear "2006" @default.
- W2152318076 type Work @default.
- W2152318076 sameAs 2152318076 @default.
- W2152318076 citedByCount "10" @default.
- W2152318076 countsByYear W21523180762014 @default.
- W2152318076 countsByYear W21523180762015 @default.
- W2152318076 countsByYear W21523180762017 @default.
- W2152318076 countsByYear W21523180762018 @default.
- W2152318076 crossrefType "journal-article" @default.
- W2152318076 hasAuthorship W2152318076A5011636981 @default.
- W2152318076 hasAuthorship W2152318076A5012342703 @default.
- W2152318076 hasAuthorship W2152318076A5045362757 @default.
- W2152318076 hasAuthorship W2152318076A5057539981 @default.
- W2152318076 hasAuthorship W2152318076A5062068278 @default.
- W2152318076 hasAuthorship W2152318076A5072543580 @default.
- W2152318076 hasAuthorship W2152318076A5079319076 @default.
- W2152318076 hasAuthorship W2152318076A5081684671 @default.
- W2152318076 hasConcept C105702510 @default.
- W2152318076 hasConcept C142724271 @default.
- W2152318076 hasConcept C172680121 @default.
- W2152318076 hasConcept C207886595 @default.
- W2152318076 hasConcept C2776260777 @default.
- W2152318076 hasConcept C2778258057 @default.
- W2152318076 hasConcept C2778676606 @default.
- W2152318076 hasConcept C2779234561 @default.
- W2152318076 hasConcept C54355233 @default.
- W2152318076 hasConcept C71924100 @default.
- W2152318076 hasConcept C86803240 @default.
- W2152318076 hasConceptScore W2152318076C105702510 @default.
- W2152318076 hasConceptScore W2152318076C142724271 @default.
- W2152318076 hasConceptScore W2152318076C172680121 @default.
- W2152318076 hasConceptScore W2152318076C207886595 @default.
- W2152318076 hasConceptScore W2152318076C2776260777 @default.
- W2152318076 hasConceptScore W2152318076C2778258057 @default.
- W2152318076 hasConceptScore W2152318076C2778676606 @default.
- W2152318076 hasConceptScore W2152318076C2779234561 @default.
- W2152318076 hasConceptScore W2152318076C54355233 @default.
- W2152318076 hasConceptScore W2152318076C71924100 @default.
- W2152318076 hasConceptScore W2152318076C86803240 @default.
- W2152318076 hasIssue "13" @default.
- W2152318076 hasLocation W21523180761 @default.
- W2152318076 hasLocation W21523180762 @default.
- W2152318076 hasOpenAccess W2152318076 @default.
- W2152318076 hasPrimaryLocation W21523180761 @default.
- W2152318076 hasRelatedWork W1969022859 @default.
- W2152318076 hasRelatedWork W2011591859 @default.
- W2152318076 hasRelatedWork W2014793236 @default.
- W2152318076 hasRelatedWork W2024583479 @default.
- W2152318076 hasRelatedWork W2041651589 @default.
- W2152318076 hasRelatedWork W2153061730 @default.
- W2152318076 hasRelatedWork W2368136628 @default.
- W2152318076 hasRelatedWork W2391330661 @default.
- W2152318076 hasRelatedWork W3030709480 @default.
- W2152318076 hasRelatedWork W55272439 @default.
- W2152318076 hasVolume "26" @default.
- W2152318076 isParatext "false" @default.
- W2152318076 isRetracted "false" @default.
- W2152318076 magId "2152318076" @default.
- W2152318076 workType "article" @default.