Matches in SemOpenAlex for { <https://semopenalex.org/work/W2000237364> ?p ?o ?g. }
Showing items 1 to 89 of
89
with 100 items per page.
- W2000237364 endingPage "171" @default.
- W2000237364 startingPage "168" @default.
- W2000237364 abstract "<i>Objective:</i> To present the usefulness of fetal magnetic resonance (MR) imaging for accurate diagnosis of Pfeiffer syndrome type II. <i>Case and Methods:</i> A 19-year-old woman was referred to us at 29 weeks of gestation for prenatal management of hydrocephalus. Ultrasonography of the fetus showed cloverleaf skull with dilated lateral ventricles, exophthalmos, macroglossia, and a single ventricle of the heart in addition to polyhydramnios. MR imaging was performed at 30 weeks of gestation and revealed cloverleaf skull, dilated lateral ventricles, and broad thumb. Fetal karyotyping indicated 46,XY, but DNA sequence analysis showed a single sequence variation (Nt 1198A>G) in the fibroblast growth factor receptor (FGFR) 2 gene (exon 10). On the basis of these findings, the baby was diagnosed in utero with Pfeiffer syndrome type II. Following counseling, the pregnancy was terminated because polyhydramnios made the patient’s symptoms more severe. The patient delivered her baby vaginally at 34 weeks of gestation. The baby’s birth weight was 2,298 g; the baby was declared dead at 25 min after birth. <i>Conclusion:</i> The detailed findings obtained by a combination of ultrasound that included three-dimensional and MR imaging and confirmation sought via molecular testing led to an accurate diagnosis of Pfeiffer syndrome type II in utero." @default.
- W2000237364 created "2016-06-24" @default.
- W2000237364 creator A5056878282 @default.
- W2000237364 creator A5075596579 @default.
- W2000237364 creator A5084824103 @default.
- W2000237364 date "2006-01-01" @default.
- W2000237364 modified "2023-10-14" @default.
- W2000237364 title "Usefulness of Magnetic Resonance Imaging for Accurate Diagnosis of Pfeiffer Syndrome Type II in utero" @default.
- W2000237364 cites W1979814231 @default.
- W2000237364 cites W1997969705 @default.
- W2000237364 cites W2001896944 @default.
- W2000237364 cites W2004299593 @default.
- W2000237364 cites W2011667616 @default.
- W2000237364 cites W2015970904 @default.
- W2000237364 cites W2038198778 @default.
- W2000237364 cites W2039727366 @default.
- W2000237364 cites W2041222910 @default.
- W2000237364 cites W2045616947 @default.
- W2000237364 cites W2046772414 @default.
- W2000237364 cites W2054713087 @default.
- W2000237364 cites W2086770937 @default.
- W2000237364 cites W2133447954 @default.
- W2000237364 cites W2140457002 @default.
- W2000237364 cites W2169403682 @default.
- W2000237364 doi "https://doi.org/10.1159/000089297" @default.
- W2000237364 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/16490997" @default.
- W2000237364 hasPublicationYear "2006" @default.
- W2000237364 type Work @default.
- W2000237364 sameAs 2000237364 @default.
- W2000237364 citedByCount "14" @default.
- W2000237364 countsByYear W20002373642012 @default.
- W2000237364 countsByYear W20002373642013 @default.
- W2000237364 countsByYear W20002373642017 @default.
- W2000237364 crossrefType "journal-article" @default.
- W2000237364 hasAuthorship W2000237364A5056878282 @default.
- W2000237364 hasAuthorship W2000237364A5075596579 @default.
- W2000237364 hasAuthorship W2000237364A5084824103 @default.
- W2000237364 hasConcept C126838900 @default.
- W2000237364 hasConcept C141071460 @default.
- W2000237364 hasConcept C143409427 @default.
- W2000237364 hasConcept C172680121 @default.
- W2000237364 hasConcept C201614185 @default.
- W2000237364 hasConcept C2776907564 @default.
- W2000237364 hasConcept C2777162553 @default.
- W2000237364 hasConcept C2778258057 @default.
- W2000237364 hasConcept C2778715190 @default.
- W2000237364 hasConcept C2779234561 @default.
- W2000237364 hasConcept C2779302956 @default.
- W2000237364 hasConcept C46973012 @default.
- W2000237364 hasConcept C54355233 @default.
- W2000237364 hasConcept C71924100 @default.
- W2000237364 hasConcept C86803240 @default.
- W2000237364 hasConceptScore W2000237364C126838900 @default.
- W2000237364 hasConceptScore W2000237364C141071460 @default.
- W2000237364 hasConceptScore W2000237364C143409427 @default.
- W2000237364 hasConceptScore W2000237364C172680121 @default.
- W2000237364 hasConceptScore W2000237364C201614185 @default.
- W2000237364 hasConceptScore W2000237364C2776907564 @default.
- W2000237364 hasConceptScore W2000237364C2777162553 @default.
- W2000237364 hasConceptScore W2000237364C2778258057 @default.
- W2000237364 hasConceptScore W2000237364C2778715190 @default.
- W2000237364 hasConceptScore W2000237364C2779234561 @default.
- W2000237364 hasConceptScore W2000237364C2779302956 @default.
- W2000237364 hasConceptScore W2000237364C46973012 @default.
- W2000237364 hasConceptScore W2000237364C54355233 @default.
- W2000237364 hasConceptScore W2000237364C71924100 @default.
- W2000237364 hasConceptScore W2000237364C86803240 @default.
- W2000237364 hasIssue "2" @default.
- W2000237364 hasLocation W20002373641 @default.
- W2000237364 hasLocation W20002373642 @default.
- W2000237364 hasOpenAccess W2000237364 @default.
- W2000237364 hasPrimaryLocation W20002373641 @default.
- W2000237364 hasRelatedWork W1964838987 @default.
- W2000237364 hasRelatedWork W1972872568 @default.
- W2000237364 hasRelatedWork W2001843739 @default.
- W2000237364 hasRelatedWork W2013858376 @default.
- W2000237364 hasRelatedWork W2095010587 @default.
- W2000237364 hasRelatedWork W2097849639 @default.
- W2000237364 hasRelatedWork W2129429195 @default.
- W2000237364 hasRelatedWork W2253894962 @default.
- W2000237364 hasRelatedWork W2264180514 @default.
- W2000237364 hasRelatedWork W4296345300 @default.
- W2000237364 hasVolume "21" @default.
- W2000237364 isParatext "false" @default.
- W2000237364 isRetracted "false" @default.
- W2000237364 magId "2000237364" @default.
- W2000237364 workType "article" @default.