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The 20th century Danish facial cleft population--epidemiological and genetic-epidemiological studies.

https://arctichealth.org/en/permalink/ahliterature33384
Source
Cleft Palate Craniofac J. 1999 Mar;36(2):96-104
Publication Type
Article
Date
Mar-1999
Author
K. Christensen
Author Affiliation
Institute of Public Health, Epidemiology, Odense University, Denmark. k-christensen@win-chs.ou.dk
Source
Cleft Palate Craniofac J. 1999 Mar;36(2):96-104
Date
Mar-1999
Language
English
Publication Type
Article
Keywords
Child, Preschool
Cleft Lip - epidemiology - genetics
Cleft Palate - epidemiology - genetics
Cohort Studies
Denmark - epidemiology
Diseases in Twins - epidemiology - genetics
Epidemiology, Molecular
Female
Humans
Incidence
Infant
Infant, Newborn
Male
Pregnancy
Prevalence
Prospective Studies
Research Support, Non-U.S. Gov't
Research Support, U.S. Gov't, P.H.S.
Risk factors
Seasons
Sex Factors
Twin Studies
Variation (Genetics)
Abstract
Since Dr. Fogh-Andersen's legendary 1942 thesis, the Danish facial cleft population has been one of the most extensively studied in terms of epidemiology and genetic-epidemiology. The etiology of cleft lip and/or palate (CLP) is still largely an enigma, and different results concerning environmental and genetic risk factors are obtained in different countries and regions. This may be due to etiological heterogeneity between settings. Therefore, an in-depth studied area with an ethnically homogeneous population, such as Denmark, has provided one of the best opportunities for progress in CLP etiological research. The present review summarizes epidemiological and genetic-epidemiological studies conducted in the 20th century Danish facial cleft population. Furthermore, analyses of sex differences, time trends and seasonality for more than 7000 CLP cases born in Denmark in the period 1936 to 1987 are presented. The review also points toward the excellent opportunities for continued etiological CLP research in Denmark in the 21st century using already established resources and an on-going prospective cohort study of 100,000 pregnant women.
PubMed ID
10213053 View in PubMed
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Additional post-natal diagnoses following antenatal diagnosis of isolated cleft lip +/- palate.

https://arctichealth.org/en/permalink/ahliterature104734
Source
Arch Dis Child Fetal Neonatal Ed. 2014 Jul;99(4):F286-90
Publication Type
Article
Date
Jul-2014
Author
Lindsay Burnell
Cynthia Verchere
Denise Pugash
Christine Loock
Sandra Robertson
Anna Lehman
Source
Arch Dis Child Fetal Neonatal Ed. 2014 Jul;99(4):F286-90
Date
Jul-2014
Language
English
Publication Type
Article
Keywords
Abnormalities, Multiple - diagnosis - epidemiology - genetics
British Columbia - epidemiology
Chromosome Aberrations
Cleft Lip - epidemiology - genetics - ultrasonography
Cleft Palate - epidemiology - genetics - ultrasonography
Developmental Disabilities - diagnosis - epidemiology - genetics
Female
Follow-Up Studies
Humans
Infant, Newborn
Karyotyping
Male
Pregnancy
Prognosis
Retrospective Studies
Syndrome
Ultrasonography, Prenatal
Abstract
Cleft lip with or without palate (CLP) can be diagnosed antenatally through ultrasound, and may be categorised as apparently isolated versus associated with other malformations. Limited data exist on the long-term outcomes following antenatal diagnosis of apparently isolated CLP.
This study examined the long-term post-natal outcomes of CLP when found in isolation antenatally, in order to determine the rates of unexpected additional anomalies, developmental delay or genetic syndromes.
A retrospective chart review of antenatal and post-natal medical charts was completed for a ten-year period between January 2000 and December 2009. At least 2 years of available post-natal clinical information was required for inclusion in the study.
A total of 97 cases of antenatally isolated CLP were ascertained. Fifteen pregnancies were terminated. Follow-up data were available for 81 liveborns, though 4 were lost to follow-up prior to 2 years of age. Twelve of the 77 children meeting study criteria were identified to have other major malformations and/or developmental disability either later in the pregnancy or post-natally. Findings included familial clefting syndromes, trisomy 21, autism spectrum disorders, brain malformations, fetal alcohol syndrome and Kabuki syndrome, among other findings. Another 11 children had additional anomalies of minor impact. Examples of findings include a perimembranous ventricular septal defect, mild unilateral optic nerve hypoplasia, mild pulmonary artery stenosis with a small atrial septal defect, and transient delays in fine and gross motor skills. No children with clefting of the lip only had major additional diagnoses.
PubMed ID
24625434 View in PubMed
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An estimation of the number of susceptibility loci for isolated cleft palate.

https://arctichealth.org/en/permalink/ahliterature220168
Source
J Craniofac Genet Dev Biol. 1993 Oct-Dec;13(4):230-5
Publication Type
Article
Author
D. FitzPatrick
M. Farrall
Author Affiliation
Duncan Guthrie Institute of Medical Genetics, Yorkhill, Glasgow, U.K.
Source
J Craniofac Genet Dev Biol. 1993 Oct-Dec;13(4):230-5
Language
English
Publication Type
Article
Keywords
Cleft Lip - epidemiology - genetics
Cleft Palate - epidemiology - genetics
Cluster analysis
Denmark
France
Humans
Models, Genetic
Risk factors
Scotland
United States
Abstract
The existence of a major gene (or genes) that contributes significantly to the familial clustering of cleft lip with or without cleft palate (CL(P)) has been suggested by genetic epidemiology studies and supported by patient-control genotype association studies with a candidate gene. Here we present an analysis of the familial recurrence risk data for isolated cleft palate (CP) and show that an oligogenic model with six genes of equal effect fits the data best. The discrimination between alternative models is, however, poor and a major locus that explains half of the familial recurrence is plausible. The prospects for identification of susceptibility loci for CP are discussed.
PubMed ID
8288730 View in PubMed
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Cleft lip and palate in a Norwegian population. II. A numerical study of 1555 CLP-patients admitted for surgical treatment 1954-75.

https://arctichealth.org/en/permalink/ahliterature41767
Source
Scand J Plast Reconstr Surg. 1978;12(1):35-43
Publication Type
Article
Date
1978

Cleft lip+/-cleft palate: an overview of the literature and an analysis of Danish cases born between 1941 and 1968.

https://arctichealth.org/en/permalink/ahliterature246252
Source
Am J Med Genet. 1980;6(1):83-97
Publication Type
Article
Date
1980
Author
M. Melnick
D. Bixler
P. Fogh-Andersen
P M Conneally
Source
Am J Med Genet. 1980;6(1):83-97
Date
1980
Language
English
Publication Type
Article
Keywords
Cleft Lip - epidemiology - genetics
Cleft Palate - epidemiology - genetics
Denmark
Female
Gene Frequency
Humans
Male
Retrospective Studies
Risk
Sex Factors
Sex ratio
Abstract
In recent years there has been some controversy over the analytical designs and the meaning of varying results with regard to studies of facial clefting and other common congenital malformations. Regardless, it is still unclear as to the nature of the genetic and environmental components of the etiology as well as the nature of the relevant pathogenetic mechanisms. Despite claims to the contrary, the predictions of a particular multifactorial/threshold inheritance (MF/T) model delineated by Carter [1977d] and others are not well supported by studies worldwide. The present study population consists of 1,895 persons born in Denmark with cleft lip with or without cleft palate (CL +/- P) between 1941 and 1968. A test of the MF/T predictions revealed the following: 1) the incidence of CL +/- P in siblings was 40 X greater than that in the general population 2) the risk to siblings of CL +/- P females was not significantly different from the risk to siblings of CL +/- P males; 3) recurrence risk for siblings of CL +/- P probands was dependent upon the proband's cleft type; 4) only 0.4% of the variation in risk to the siblings born after the proband could be accounted for by the number of previously affected siblings; 5) the consanguinity rate was 6 times less than the general population rate; 6) heritability estimates from siblings and parents by sex suggest, either the presence of significant dominance effects, or a common sibling environment component in the etiology of the disorder. Further, testing with a multiple-sex threshold method, designed and provided us by [Kidd and Spence, 1976] revealed that neither the MF/T nor single-major locus with random environmental variation provided a good fit. In light of recent experimental mouse and human data, an alternative model of monogenic-dependent susceptibility to a variety of teratogens is discussed.
PubMed ID
7395925 View in PubMed
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Cleft lip (+/- cleft palate) in Danish twins, 1970-1990.

https://arctichealth.org/en/permalink/ahliterature64773
Source
Am J Med Genet. 1993 Nov 1;47(6):910-6
Publication Type
Article
Date
Nov-1-1993
Author
K. Christensen
P. Fogh-Andersen
Author Affiliation
Genetic Epidemiologic Research Unit, Odense University, Denmark.
Source
Am J Med Genet. 1993 Nov 1;47(6):910-6
Date
Nov-1-1993
Language
English
Publication Type
Article
Keywords
Abnormalities - epidemiology - genetics
Cleft Lip - epidemiology - genetics - surgery
Cleft Palate - epidemiology - genetics - surgery
Denmark - epidemiology
Diseases in Twins - epidemiology
Family
Female
Humans
Linkage (Genetics)
Male
Registries
Research Support, Non-U.S. Gov't
Risk factors
Twins, Dizygotic
Twins, Monozygotic
Abstract
A classical twin study is one of the best methods to address the open question of the role of genes and environment in the cause of cleft lip with or without cleft palate [CL(P)]. In addition, when twin concordance rates are combined with information about the risk for CL(P) to more remote relatives, they can help to establish the most likely mode of inheritance for CL(P). The present study was based on three nation wide ascertainment sources of CL(P) in twins in Denmark during the period 1970-1990. The Danish surgical files were found suitable for ascertaining twins with non-syndromic CL(P) and a total of 39 pairs was identified through these files. In more than 70% of the cases, the zygosity assignment was based on unlike-sex or an extensive panel of blood, serum, and enzyme types. More mono- and dizygotic twin (CL(P) cases than expected were found, although the difference was not significant. The proband concordance rate for CL(P) was 60% in monozygotic twins and 10% in dizygotic twins; six cases were of unknown zygosity. This finding indicates that genetic factors play a major role in the cause of CL(P) but environmental and/or stochastic factors are probably acting too. When the familial recurrence patterns analyzed by Mitchell and Risch [1992: Am J Hum Genet 51:323-332] are interpreted in light of these new estimates of monozygotic concordance, they provide further evidence for the finding that no single locus can account for more than a six-fold increase in risk to first-degree relatives.
PubMed ID
8279491 View in PubMed
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Cleft-twin sets in Finland 1948-1987.

https://arctichealth.org/en/permalink/ahliterature64461
Source
Cleft Palate Craniofac J. 1996 Jul;33(4):340-7
Publication Type
Article
Date
Jul-1996
Author
R E Nordström
T. Laatikainen
T O Juvonen
R E Ranta
Author Affiliation
Department of Plastic Surgery, University Hospital of Tromsö, Finland.
Source
Cleft Palate Craniofac J. 1996 Jul;33(4):340-7
Date
Jul-1996
Language
English
Publication Type
Article
Keywords
Cleft Lip - epidemiology - genetics
Cleft Palate - epidemiology - genetics
Comparative Study
Denmark - epidemiology
Diseases in Twins - epidemiology
Female
Finland - epidemiology
Humans
Incidence
Male
Pregnancy
Research Support, Non-U.S. Gov't
Retrospective Studies
Scandinavia - epidemiology
Sex Factors
Syndrome
Triplets
Twins
Twins, Dizygotic
Twins, Monozygotic
Abstract
Extensive review of the literature since 1884 on cleft-twin sets yielded 364 cleft-twin sets. Of these, 118 were monozygotic (MZ) and 246 dizygotic (DZ) sets. In addition, Danish material on cleft twins, like our Finnish material, reflects the total number of clefts and cleft twins on a well-defined population during a well-defined time interval. Both sets of material also contain slightly over 100 pairs of twins. The Danish material and the literature review were compared to the Finnish material. The hospital records of all Finnish patients with operated clefts who were born between 1948 and 1987 were reviewed. Information was gathered regarding each patient, his parents, the pregnancy, and his twin or triplet siblings and other siblings. This search produced 105 sets of twins and three sets of triplets with clefts, 15 sets of twins being concordant regarding clefting. This resulted in a total of 120 cleft siblings, and the corrected cleft incidence of 1.72 promille, close to the overall cleft incidence rate in Finland between 1948 and 1975. Twinning was found to be associated neither with an increased nor with a decreased risk of clefting, and clefting could not be seen to increase twinning. Zygosity could be verified in 88 sets of twins; the total number of MZ sets was 17, and of DZ was 71, a 19% MZ rate. Although a higher incidence of clefting in MZ-twin sets has been proposed, no such higher or lower incidence could be found in our material. Recognized syndromes were found in 15 sets (14%), slightly higher than found in a large Finnish study on cleft probands (8.4%). Of these, three sets were monozygotic (MZ), all of them cleft palate (CP) and male sets, whereas eight sets were dizygotic (DZ). All 15 sets were CP only, with no one set with cleft lip and palate [CL(P)]. In our total Finnish-twin material of 105 sets, we found the CL(P)/CP ratio to be 39/66 (37%/63%). In all of the 120 affected siblings, the ratio was 35%/65%. The very high rate of 63% of CP twins is about two to three times higher than that reported in the literature of 364 sets where the CP ratio is 23%; compared to the Danish material with a CP ratio of 17%, it is almost four-fold. The overall CP rate in all clefts (not restricted to twins) in Finland compared to the rate in our neighboring Scandinavian countries was very much in line with this very big difference seen in the CP rate in our twin material. The CL(P) incidence in our Finnish material is 0.61 promille and the CP incidence 1.11 promille. For MZCL(P), the incidence was 0.38 promille; for MZCP, 0.91 promille; for DZCL(P), 0.52 promille, and for DZCP, 0.99 promille. Compared to the Danish figures both the MZCP and DZCP incidence figures are nearly four-fold, with the MZCL(P) somewhat lower, and DZCL(P) less than half that number. The sex distribution of all cleft patients in our material was 44% male/56% female. Both in the Danish material and in the literature, it was the reverse. This difference is probably due mostly to the higher ratio of CP in the Finnish material. The CP group has a higher proportion of females in all these materials. The concordance (C) of the whole Finnish-twin material is 14%, compared to 16.5% reported in the literature and 8% for the Danish twins. The concordance for CL(P) in our material is many times lower (2.6%) than in the literature (17.1%) and in the Danish material (8%). In the Finnish twins, the C for CP is higher (17%) than that for the Danish (6%) and for the literature cleft-twin populations (14.3%). This is also true for the MZ and DZ subgroups. The heritability index (H) in CL(P) is lower for the Finns (17%) than for the Danish (45%) and for the literature materials (43%), and higher for CP (Finns 49%, Danish 33%, literature 36%). All of these data strongly suggest the quite different genetic behavior of both CL(P) and CP in Finland, with a much lower genetic component in the CL(P) and a higher in the CP.
Notes
Comment In: Cleft Palate Craniofac J. 1996 Nov;33(6):5308939382
PubMed ID
8827393 View in PubMed
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Correlations of hypodontia in children with isolated cleft palate.

https://arctichealth.org/en/permalink/ahliterature242064
Source
Cleft Palate J. 1983 Apr;20(2):163-5
Publication Type
Article
Date
Apr-1983
Author
R. Ranta
T. Stegars
A E Rintala
Source
Cleft Palate J. 1983 Apr;20(2):163-5
Date
Apr-1983
Language
English
Publication Type
Article
Keywords
Anodontia - epidemiology - genetics
Child
Cleft Palate - epidemiology - genetics
Female
Finland
Fistula - epidemiology - genetics
Humans
Lip Diseases - epidemiology - genetics
Male
Sex Factors
Syndrome
Abstract
A total of 251 children with isolated cleft palate were examined. Orthopantomograms, taken at the age of 6-12 years, were used in the detection of hypodontia of the permanent teeth, excluding the third molars. The findings were: 1. Familial history of clefting has no pronounced effect on the prevalence of hypodontia; 2. The prevalence of hypodontia was significantly higher in children with conical elevation of the lower lip than in those without it (40% to 25%), and increased with increasing extension of the cleft; 3. Cleft palate was associated with conical elevation and/or hypodontia in 56% of the subjects. The same etiological factor or factors seems to be responsible for the formation of the cleft, for conical elevation, and for hypodontia.
PubMed ID
6573982 View in PubMed
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30 records – page 1 of 3.