FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2085129557> ?p ?o ?g. }

• W2085129557 endingPage "59" @default.
• W2085129557 startingPage "59" @default.
• W2085129557 abstract "Introduction :Holoprosencephaly (HPE) is a midline developmental field defect of prosencephalon and craniofacial structures that presents great clinical variability and etiologic heterogeneity. The epidemiology is poorly known due to the paucity of population-based studies. Aims: 1) To describe clinical, cytogenetic and epidemiological aspects of this malformation using cases identified through the Garrahan Hospital Genetic Registry from 1988 to 1997 ; 2) To evaluate the predictive value of the facial anomalies for the detection of HPE ; 3) To compare all these data with those previously reported in other populations. Results: We describe the craniofacial abnormalities, present their relative frequencies, coocurrence and their correlation with the severity of the brain defects including the presence of midline porencephalic cysts. The facial abnormalities allowed the prediction of the brain defect in 85.7% of our cases, being hipotelorism the most reliable clinical sing. Among the different etiologies of HPE, from a total of 35 cases, we found that: 34.3% had isolated HPE, 45.7% presented a named syndrome, 8.6% were due to the exposure to teratogenic agents and 11.4% had a chromosomal abnormality including trisomy of chromosome 13 and structural rearrangements of chromosome 7. Prevalence among girls was nearly double that of boys in concordance with previous reports. Also, there was no maternal or paternal age effect. Conclusions: 1) The prevalence of named syndromes in our population is unusually higher; 2) The predictive value of the facial anomalies is extremely high, 3) The frequent coocurrence of neural tube defects NTDs and HPE and the high rates of NTDs among relatives of our cases suggest that this is more than the association of two common malformations ; 4) The midline porencephalic cysts have to be considered as a part of the holoprosencephaly spectrum. This is, to our knowledge, the first clinical, cytogenetic and epidemiological study of this malformation in our population Our results highlight the need for a thorough assessment of the patient and family, realizing the clinical variability and etiologic heterogeneity of HPE." @default.
• W2085129557 created "2016-06-24" @default.
• W2085129557 creator A5003865859 @default.
• W2085129557 creator A5006019160 @default.
• W2085129557 creator A5025808187 @default.
• W2085129557 creator A5037224931 @default.
• W2085129557 creator A5041537315 @default.
• W2085129557 creator A5060803594 @default.
• W2085129557 creator A5080242838 @default.
• W2085129557 date "1999-02-01" @default.
• W2085129557 modified "2023-09-26" @default.
• W2085129557 title "Clinical, cytogenetic and epidemiological approaches to the genetic heterogeneity of holoprosencephaly. Buenos Aires, 1988–1997" @default.
• W2085129557 doi "https://doi.org/10.1097/00125817-199901000-00073" @default.
• W2085129557 hasPublicationYear "1999" @default.
• W2085129557 type Work @default.
• W2085129557 sameAs 2085129557 @default.
• W2085129557 citedByCount "0" @default.
• W2085129557 crossrefType "journal-article" @default.
• W2085129557 hasAuthorship W2085129557A5003865859 @default.
• W2085129557 hasAuthorship W2085129557A5006019160 @default.
• W2085129557 hasAuthorship W2085129557A5025808187 @default.
• W2085129557 hasAuthorship W2085129557A5037224931 @default.
• W2085129557 hasAuthorship W2085129557A5041537315 @default.
• W2085129557 hasAuthorship W2085129557A5060803594 @default.
• W2085129557 hasAuthorship W2085129557A5080242838 @default.
• W2085129557 hasBestOaLocation W20851295571 @default.
• W2085129557 hasConcept C104317684 @default.
• W2085129557 hasConcept C107130276 @default.
• W2085129557 hasConcept C127716648 @default.
• W2085129557 hasConcept C142724271 @default.
• W2085129557 hasConcept C172680121 @default.
• W2085129557 hasConcept C177860879 @default.
• W2085129557 hasConcept C2779234561 @default.
• W2085129557 hasConcept C2781374659 @default.
• W2085129557 hasConcept C54355233 @default.
• W2085129557 hasConcept C64618202 @default.
• W2085129557 hasConcept C71924100 @default.
• W2085129557 hasConcept C78458016 @default.
• W2085129557 hasConcept C86803240 @default.
• W2085129557 hasConceptScore W2085129557C104317684 @default.
• W2085129557 hasConceptScore W2085129557C107130276 @default.
• W2085129557 hasConceptScore W2085129557C127716648 @default.
• W2085129557 hasConceptScore W2085129557C142724271 @default.
• W2085129557 hasConceptScore W2085129557C172680121 @default.
• W2085129557 hasConceptScore W2085129557C177860879 @default.
• W2085129557 hasConceptScore W2085129557C2779234561 @default.
• W2085129557 hasConceptScore W2085129557C2781374659 @default.
• W2085129557 hasConceptScore W2085129557C54355233 @default.
• W2085129557 hasConceptScore W2085129557C64618202 @default.
• W2085129557 hasConceptScore W2085129557C71924100 @default.
• W2085129557 hasConceptScore W2085129557C78458016 @default.
• W2085129557 hasConceptScore W2085129557C86803240 @default.
• W2085129557 hasIssue "2" @default.
• W2085129557 hasLocation W20851295571 @default.
• W2085129557 hasOpenAccess W2085129557 @default.
• W2085129557 hasPrimaryLocation W20851295571 @default.
• W2085129557 hasRelatedWork W1828691184 @default.
• W2085129557 hasRelatedWork W1903732681 @default.
• W2085129557 hasRelatedWork W1991523530 @default.
• W2085129557 hasRelatedWork W2001792568 @default.
• W2085129557 hasRelatedWork W2001845443 @default.
• W2085129557 hasRelatedWork W2002128513 @default.
• W2085129557 hasRelatedWork W2020824267 @default.
• W2085129557 hasRelatedWork W2152909534 @default.
• W2085129557 hasRelatedWork W2804904774 @default.
• W2085129557 hasRelatedWork W2092874662 @default.
• W2085129557 hasVolume "1" @default.
• W2085129557 isParatext "false" @default.
• W2085129557 isRetracted "false" @default.
• W2085129557 magId "2085129557" @default.
• W2085129557 workType "article" @default.