Matches in SemOpenAlex for { <https://semopenalex.org/work/W1635793246> ?p ?o ?g. }
Showing items 1 to 72 of
72
with 100 items per page.
- W1635793246 endingPage "310" @default.
- W1635793246 startingPage "309" @default.
- W1635793246 abstract "Apert syndrome (AS) is a rare genetic disorder characterized by bilateral coronal craniosynostosis, midfacial hypoplaisa, and syndactyly of the hands and feet. Although the molecular basis of AS has been reported, the majority of prenatal dignoses of sporadic AS are based on findings of ultrasonography (USG). We report a case of AS with USG and 3-D helical computerized tomography (3-D HCT). A 27-year-old woman, gravid 1, was referred to our department for an USG at 23 weeks' gestation because fetal clenched fist was suspected by the referring physician. On 2D USG, the anterior suture of the skull seemed to disappear. Fetal digits of both hands did not appear to move independently. On 3D USG, bilateral coronal suture fusion was documented by axial acquisition with maximum mode. Widely open metopic suture and anterior fontanelle were also recognized. “Mitten-hands” were significant on 3D surface mode reconstruction. These USG findings led us to make the diagnosis of AS. The parents asked for a 2nd imaging modality to confirm USG findings. 3D HCT was arranged. Bilateral coronal craniosynostosis was confirmed. All digits were present but in a fixed position compatible with cutaneous syndactyly. The parents chose to terminate the pregnancy. A female abortus with phenotype of AS was born after vaginal misoprostol application. The parents declined necropsy and further molecular analysis. Although the diagnosis of the majority of sporadic AS is based on USG findings, the timing of presentation of these findings varies, especially abnormal fetal skull shape related to craniosynostosis. 3-D USG or 3-D HCT is helpful to confirm craniosynostosis. “Mitten hands” are more significant on 3D USG than 2D USG. 3-D HCT is helpful to confirm cutaneous syndactly. There is a concern of fetal radiation exposure with prenatal 3-D HCT, but in selected cases, 3-D HCT can provide additional information of the fetal bones to direct subsequent management." @default.
- W1635793246 created "2016-06-24" @default.
- W1635793246 creator A5015232972 @default.
- W1635793246 creator A5059427466 @default.
- W1635793246 creator A5077029278 @default.
- W1635793246 date "2012-09-01" @default.
- W1635793246 modified "2023-10-18" @default.
- W1635793246 title "P33.17: Prenatal diagnosis of sporadic Apert syndrome with ultrasound and 3D helical computerized tomography" @default.
- W1635793246 doi "https://doi.org/10.1002/uog.12254" @default.
- W1635793246 hasPublicationYear "2012" @default.
- W1635793246 type Work @default.
- W1635793246 sameAs 1635793246 @default.
- W1635793246 citedByCount "0" @default.
- W1635793246 crossrefType "journal-article" @default.
- W1635793246 hasAuthorship W1635793246A5015232972 @default.
- W1635793246 hasAuthorship W1635793246A5059427466 @default.
- W1635793246 hasAuthorship W1635793246A5077029278 @default.
- W1635793246 hasConcept C105702510 @default.
- W1635793246 hasConcept C126838900 @default.
- W1635793246 hasConcept C13483470 @default.
- W1635793246 hasConcept C141071460 @default.
- W1635793246 hasConcept C172680121 @default.
- W1635793246 hasConcept C2777026625 @default.
- W1635793246 hasConcept C2777202849 @default.
- W1635793246 hasConcept C2777327002 @default.
- W1635793246 hasConcept C2778258057 @default.
- W1635793246 hasConcept C2778715190 @default.
- W1635793246 hasConcept C2779234561 @default.
- W1635793246 hasConcept C2779300802 @default.
- W1635793246 hasConcept C2779302956 @default.
- W1635793246 hasConcept C2779903241 @default.
- W1635793246 hasConcept C54355233 @default.
- W1635793246 hasConcept C71924100 @default.
- W1635793246 hasConcept C86803240 @default.
- W1635793246 hasConceptScore W1635793246C105702510 @default.
- W1635793246 hasConceptScore W1635793246C126838900 @default.
- W1635793246 hasConceptScore W1635793246C13483470 @default.
- W1635793246 hasConceptScore W1635793246C141071460 @default.
- W1635793246 hasConceptScore W1635793246C172680121 @default.
- W1635793246 hasConceptScore W1635793246C2777026625 @default.
- W1635793246 hasConceptScore W1635793246C2777202849 @default.
- W1635793246 hasConceptScore W1635793246C2777327002 @default.
- W1635793246 hasConceptScore W1635793246C2778258057 @default.
- W1635793246 hasConceptScore W1635793246C2778715190 @default.
- W1635793246 hasConceptScore W1635793246C2779234561 @default.
- W1635793246 hasConceptScore W1635793246C2779300802 @default.
- W1635793246 hasConceptScore W1635793246C2779302956 @default.
- W1635793246 hasConceptScore W1635793246C2779903241 @default.
- W1635793246 hasConceptScore W1635793246C54355233 @default.
- W1635793246 hasConceptScore W1635793246C71924100 @default.
- W1635793246 hasConceptScore W1635793246C86803240 @default.
- W1635793246 hasIssue "S1" @default.
- W1635793246 hasLocation W16357932461 @default.
- W1635793246 hasOpenAccess W1635793246 @default.
- W1635793246 hasPrimaryLocation W16357932461 @default.
- W1635793246 hasRelatedWork W1543153172 @default.
- W1635793246 hasRelatedWork W195311492 @default.
- W1635793246 hasRelatedWork W1986827162 @default.
- W1635793246 hasRelatedWork W1998993339 @default.
- W1635793246 hasRelatedWork W2003919174 @default.
- W1635793246 hasRelatedWork W2278514076 @default.
- W1635793246 hasRelatedWork W2469229860 @default.
- W1635793246 hasRelatedWork W2982502045 @default.
- W1635793246 hasRelatedWork W3089233612 @default.
- W1635793246 hasRelatedWork W4200323927 @default.
- W1635793246 hasVolume "40" @default.
- W1635793246 isParatext "false" @default.
- W1635793246 isRetracted "false" @default.
- W1635793246 magId "1635793246" @default.
- W1635793246 workType "article" @default.