FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2016161863> ?p ?o ?g. }

• W2016161863 endingPage "1029" @default.
• W2016161863 startingPage "1021" @default.
• W2016161863 abstract "To review clinical and epidemiologic data of orofacial clefts and to evaluate the efficacy and the impact of prenatal diagnosis.A population-based retrospective study was carried out on data from the Congenital Malformations of Alsace Registry (France) between 1995 and 2006.A total of 321 orofacial clefts were recorded (overall prevalence, 2.1 per 1000), divided into cleft lip (CL) or cleft lip palate (CLP) (204 cases) and cleft palate (117 cases). The cleft lip and cleft lip palate CL±P sex-ratio was 1.87, whereas the CP sex-ratio was 1. CLs were more often unilateral than CLPs (79% versus 59%). CLs were unilateral in 79% of the cases (60/76), bilateral in 20% of the cases (15/76), and median in 1% (1/76); 55% of the unilateral CLs were right and 45% were left. CLPs were unilateral in 59% of the cases (76/128), bilateral in 39% of the cases (50/128), and median in 2% (2/128); 45% of the unilateral CLPs were right and 55% were left. The 117 CPs were divided into 50 clefts of the total palate (43%) and 67 clefts of the posterior palate (57%); 25 cases (21%) of Pierre Robin sequence were collected. Sixty-six percent of CL±P (134/204) were associated with other congenital anomalies, including chromosome abnormality in 31 cases and identified monogenic syndrome or association in 12 cases. The most frequent chromosome abnormalities were 16 cases of trisomy 13 and 7 cases of trisomy 18. No cases of 22q11.2 microdeletion or duplication were detected among CL±P. Monogenic syndromes were identified in 6% (12/204) of CL±P cases: Van der Woude syndrome (2 cases); CHARGE syndrome (2 cases); ectrodactyly, ectodermal dysplasia, and cleft/lip palate (EEC) syndrome (2 cases); branchiooculofacial (BOF) syndrome (1 case); Treacher-Collins syndrome (1 case); Nager syndrome (1 case); Goldenhar syndrome (1 case); holoprosencephaly spectrum (1 case); and Meckel syndrome (1 case). Forty-two percent of CPs (49/117) were associated with other congenital anomalies; chromosome abnormality was identified in 12 cases and monogenic syndrome was diagnosed in 14 cases. The most frequent chromosome abnormality was 22q11 microdeletion (5 cases). Monogenic syndromes were recognized in 12% of the CP cases (14/117): fragile X syndrome (2 cases), Meckel syndrome (2 cases), Orofaciodigital syndrome type I (OFD1) (1 case), Stickler syndrome (1 case), Larsen syndrome (1 case), Kniest syndrome (1 case), Cornelia de Lange syndrome (1 case), thanatophoric dysplasia (1 case), other unknown bone chondrodysplasia (1 case), Fryns syndrome (1 case), fetal akinesia sequence (1 case), and Silver-Russel syndrome (1 case). Fifty-two percent of CL cases (106/204) were prenatally diagnosed. An increasing tendency was observed between the 1995-2000 and 2001-2006 periods with a detection rate increasing from 47% to 56%. During the whole period, only 1 case of CP was prenatally diagnosed. Eighty-two percent of all cases (263/321) were livebirths; 8 stillbirths were reported (2%); 50 syndromic or associated cases (16%) led to medical abortion (no termination of pregnancy was performed for isolated cleft).Orofacial clefts are a frequent malformation with a total prevalence of 2.1 per 1000 total births. Sonbographic prenatal diagnosis of orofacial clefts remains difficult with a mean detection rate about 50% for CL±P and is extremely rare for CP. Associated malformations and genetic syndromes are frequent and require a systematic survey. This study also highlights the different pathogenic background of CL±P compared to CP, regarding the sex-ratio and the proportion and type of associated malformations." @default.
• W2016161863 created "2016-06-24" @default.
• W2016161863 creator A5000272233 @default.
• W2016161863 creator A5017412176 @default.
• W2016161863 creator A5020497767 @default.
• W2016161863 creator A5037443657 @default.
• W2016161863 creator A5039047006 @default.
• W2016161863 creator A5045366431 @default.
• W2016161863 creator A5045721583 @default.
• W2016161863 creator A5046095550 @default.
• W2016161863 creator A5049185643 @default.
• W2016161863 creator A5052719427 @default.
• W2016161863 creator A5053134750 @default.
• W2016161863 creator A5056770619 @default.
• W2016161863 creator A5064351237 @default.
• W2016161863 creator A5066070904 @default.
• W2016161863 creator A5066609773 @default.
• W2016161863 creator A5070608252 @default.
• W2016161863 creator A5081367683 @default.
• W2016161863 creator A5085209689 @default.
• W2016161863 creator A5086075707 @default.
• W2016161863 creator A5086291692 @default.
• W2016161863 creator A5090724750 @default.
• W2016161863 date "2012-10-01" @default.
• W2016161863 modified "2023-10-13" @default.
• W2016161863 title "Épidémiologie des fentes labio-palatines : expérience du Registre de malformations congénitales d’Alsace entre 1995 et 2006" @default.
• W2016161863 cites W1889850148 @default.
• W2016161863 cites W1977162012 @default.
• W2016161863 cites W1981653055 @default.
• W2016161863 cites W1983716089 @default.
• W2016161863 cites W1995437151 @default.
• W2016161863 cites W1995562335 @default.
• W2016161863 cites W1999645510 @default.
• W2016161863 cites W2006633413 @default.
• W2016161863 cites W2007847138 @default.
• W2016161863 cites W2023867333 @default.
• W2016161863 cites W2030627403 @default.
• W2016161863 cites W2033582412 @default.
• W2016161863 cites W2037650454 @default.
• W2016161863 cites W2039399496 @default.
• W2016161863 cites W2078046598 @default.
• W2016161863 cites W2085012200 @default.
• W2016161863 cites W2087818495 @default.
• W2016161863 cites W2103030121 @default.
• W2016161863 cites W2118741209 @default.
• W2016161863 cites W2134198313 @default.
• W2016161863 cites W2155741281 @default.
• W2016161863 cites W2174940779 @default.
• W2016161863 cites W2517902064 @default.
• W2016161863 cites W4232989845 @default.
• W2016161863 cites W4238795516 @default.
• W2016161863 doi "https://doi.org/10.1016/j.arcped.2012.07.002" @default.
• W2016161863 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/22925539" @default.
• W2016161863 hasPublicationYear "2012" @default.
• W2016161863 type Work @default.
• W2016161863 sameAs 2016161863 @default.
• W2016161863 citedByCount "28" @default.
• W2016161863 countsByYear W20161618632013 @default.
• W2016161863 countsByYear W20161618632014 @default.
• W2016161863 countsByYear W20161618632015 @default.
• W2016161863 countsByYear W20161618632016 @default.
• W2016161863 countsByYear W20161618632017 @default.
• W2016161863 countsByYear W20161618632018 @default.
• W2016161863 countsByYear W20161618632019 @default.
• W2016161863 countsByYear W20161618632021 @default.
• W2016161863 countsByYear W20161618632022 @default.
• W2016161863 countsByYear W20161618632023 @default.
• W2016161863 crossrefType "journal-article" @default.
• W2016161863 hasAuthorship W2016161863A5000272233 @default.
• W2016161863 hasAuthorship W2016161863A5017412176 @default.
• W2016161863 hasAuthorship W2016161863A5020497767 @default.
• W2016161863 hasAuthorship W2016161863A5037443657 @default.
• W2016161863 hasAuthorship W2016161863A5039047006 @default.
• W2016161863 hasAuthorship W2016161863A5045366431 @default.
• W2016161863 hasAuthorship W2016161863A5045721583 @default.
• W2016161863 hasAuthorship W2016161863A5046095550 @default.
• W2016161863 hasAuthorship W2016161863A5049185643 @default.
• W2016161863 hasAuthorship W2016161863A5052719427 @default.
• W2016161863 hasAuthorship W2016161863A5053134750 @default.
• W2016161863 hasAuthorship W2016161863A5056770619 @default.
• W2016161863 hasAuthorship W2016161863A5064351237 @default.
• W2016161863 hasAuthorship W2016161863A5066070904 @default.
• W2016161863 hasAuthorship W2016161863A5066609773 @default.
• W2016161863 hasAuthorship W2016161863A5070608252 @default.
• W2016161863 hasAuthorship W2016161863A5081367683 @default.
• W2016161863 hasAuthorship W2016161863A5085209689 @default.
• W2016161863 hasAuthorship W2016161863A5086075707 @default.
• W2016161863 hasAuthorship W2016161863A5086291692 @default.
• W2016161863 hasAuthorship W2016161863A5090724750 @default.
• W2016161863 hasConcept C118487528 @default.
• W2016161863 hasConcept C187212893 @default.
• W2016161863 hasConcept C190729725 @default.
• W2016161863 hasConcept C2776229224 @default.
• W2016161863 hasConcept C2908647359 @default.
• W2016161863 hasConcept C29456083 @default.
• W2016161863 hasConcept C54355233 @default.
• W2016161863 hasConcept C71924100 @default.
• W2016161863 hasConcept C86803240 @default.

• next