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PubMed1988

The cleft lip lower-lip deformity.

A patient with a repaired upper lip cleft may acquire a deformity in the lower lip. Records of 63 cleft lip patients who exhibited lower-lip abnormalities were analyzed in order to characterize the soft-tissue and skeletal configuration. The typical deformity was a hypertrophied, superiorly displaced, and anteriorly rotated lower lip. Skeletal analysis of the mandible revealed a variable and inconsistent degree of vertical elongation with posterior displacement of the chin. Operative correction of the cleft lip lower-lip deformity required evaluation of both the soft-tissue and skeletal abnormalities. Soft-tissue procedures gave permanent correction, provided there was a normal maxillary-mandibular relationship. Skeletal correction alone did not completely rectify the abnormal lower-lip posture.

Adolescent↗
PubMed1989

[Epidemiological investigation of cleft lip and/or palate. II. Incidence of cleft lip and palate among Japanese babies in Gifu prefecture 1986 to 1987].

Since 1981 we have been conducting investigations in Aichi Prefecture where our institution is located in close cooperation with Medical Association of Obstetrics-Gynecologists and member physicians of the Midwives Association. In addition, we surveyed 111 institutions in Gifu Prefecture for the patient who was delivered from January 1, 1986 to December 31, 1987 to learn the incidence and type classification of cleft lip and/or palate in the general population Gifu. Consequently, we acquired the date of 20667 newborns. It was found as a result that 35 babies had these abnormalities and that ratio of the birth of such newborns was one for 590.5 deliveries. Among 35 cleft infants 12 (34.3%) with cleft lip and palate, 5 (14.3%) cleft palate. Looking at the estimates from the results of our investigation, the annual number of newborns with these disease in the Gifu Prefecture was 41.6 to 41.9 in 1986, 33.5 to 33.6 in 1987 with 95 percent confidence limits.

Cleft Lip↗
PubMed2002

The current understanding of cleft lip malformations.

Cleft lip with or without cleft palate is one of the most common congenital malformations. Epidemiology differentiates between cleft malformations connected with syndromes and the more common nonsyndromic forms not associated with other deformities. Although many syndromes with cleft lip with or without cleft palate are known, the majority of orofacial clefts are of the nonsyndromic form. These are known to be of multifactorial origin, with both environmental and genetic factors in their etiology, most of which remain to be fully investigated. Recent literature reveals that wide ethnical and racial variations in the occurrence of cleft lip and/or palate exist. The purpose of this overview is to show the current standing of research in this field. Genetics, environmental factors, and morphogenesis of the primary and secondary palate in normal development and cleft malformations are especially emphasized.

Animals↗
PubMed2006

Prenatal detection of associated anomalies in fetuses diagnosed with cleft lip with or without cleft palate in utero.

OBJECTIVE: The aim of this study was to determine the prenatal detection rate of associated anomalies in fetuses with a suspected cleft lip with or without cleft palate. METHODS: Fetuses with a suspected cleft lip with or without cleft palate, determined by prenatal ultrasound, were prospectively enrolled. Additional anomalies suspected by ultrasound or genetic testing were recorded. Postnatal outcome was obtained. RESULTS: Forty-five fetuses with a cleft lip with or without cleft palate, diagnosed prenatally with either two-dimensional and/or three-dimensional ultrasound, were studied. Postnatal follow-up revealed that 16 (35.6%) of these 45 fetuses had an additional structural or syndromic abnormality. Of the 37 fetuses with prenatally determined 'isolated' cleft lip with or without cleft palate, eight (21.6%) had an additional malformation identified after delivery. CONCLUSION: In pregnancies complicated by a cleft lip with or without cleft palate, patients should be informed of the risks of associated anomalies, some of which may be undetected prenatally.

Abnormalities, Multiple↗
PubMed1999

A multicenter retrospective 3D study of serial complete unilateral cleft lip and palate and complete bilateral cleft lip and palate casts to evaluate treatment: part 1--the participating institutions and research aims.

OBJECTIVE: To compare the multicenter retrospective and prospective spatiotemporal (4D) serial analyses of complete unilateral (CUCLP) and complete bilateral (CBCLP) cleft lip and palate casts that had undergone different treatment procedures. The involved institutions are Miami Craniofacial Anomalies Foundation, South Florida Cleft Palate Clinic; University Hospital of Nijmegen Cleft Palate Center; Free University of Amsterdam Cleft Palate Center; Academic Hospital (Dijkzigt/Sophia) Rotterdam Cleft Palate Center; Center for Craniofacial Anomalies, University of Illinois College of Medicine; Cleft Palate Center, Sahlgrenska University Hospital, Göteborg, Sweden; and Children's Memorial Medical Center, Northwestern University Cleft Palate Institute. DESIGN: Using serial casts of the upper jaw and an electromechanical digitizer with special Cad-Cam software (CadKey), the occlusal relationships and morphometric palatal growth changes that occur under the influence of presurgical orthopedics and various surgical procedures will be studied. It is anticipated that 3D geometric data extracted from serial casts will identify the important geometric palatal parameters present before cleft surgical closure, which will supply objective criteria for establishing a scientific basis for improved surgical therapy. This research study will test three hypotheses: (1) Conservative (varying the timing of surgical cleft closure according to the size of the cleft space) lip and palatal surgery will permit "catch-up" palatal growth and normalize palatal growth and development. (2) The amount of mucoperiosteal tissue relative to the size of the cleft space is important in determining the timing of palatal surgery, as it influences the degree of scarring and ultimately the palate's adult size and form. (3) Presurgical orthopedics (the use of appliances soon after birth) can stimulate palatal growth beyond its normal growth potential. RESULTS: In a previous project and again after reviewing the data already collected during the first year of this study, it has been shown that incremental changes in size of palatal segments in CUCLP and CBCLP cases prior to surgery vary slightly. The CBCLP cases grow slightly faster than CUCLP cases before surgery, but growth of the CBCLP cases decreases in acceleration after surgery. Reasons for these differences will be determined when more cases are analyzed and subjected to biostatistical analysis.

Adolescent↗
PubMed1997

Differentiation between cleft lip with or without cleft palate and isolated cleft palate using parental cephalometric parameters.

OBJECTIVE: The purpose of this study was to identify and compare lateral cephalometric measurements in noncleft parents of children with cleft palate (CP) and cleft lip (CL), and cleft lip and palate (CLP). The hypothesis was that discriminant analysis would enable identification of morphometric features that predispose to orofacial clefting and that differ for CP, CL, and CLP and are unevenly distributed within parental pairs. DESIGN: This was a prospective, parametric analysis. SETTING: The study was conducted by the Department of Dental Health, University of Dundee, and the Department of Statistics, University of Glasgow, Scotland. SUBJECTS: From a completely ascertained sample of 286 children with cleft lip and/or palate born in the West of Scotland between January 1, 1980, and December 31, 1984, a sample of 83 parents of children with non-syndromic clefts volunteered for lateral cephalometric examination. METHODS: Thirty-seven cranial and 99 facial landmarks were identified and 37 linear, angular, and area parameters were used to describe the craniofacial skeleton. Analysis of variance was used for a three-way comparison of CL/CLP/CP, and stepwise discriminant analysis was used to determine which variables discriminate best between cleft lip with or without cleft palate [CL(P)] and isolated cleft palate (CP) parents. RESULTS: There were no significant differences whatsoever in the craniofacial morphology between the parents of children with CL and CLP, but differences were found between the CL(P) and CP groups. The most significant of these were in mandibular length, ramus length, mandibular area, and cranial area. Mandibular ramus length alone discriminated between the two groups in 71.4% of CP and in 62.5% of CL(P) cases, while separate analysis of fathers and mothers showed that ramus length and cranial height together reliably distinguish between mothers in 75% of CP and 80% of CL(P) cases. CONCLUSIONS: Previous studies suggests that unaffected parents with non-syndromic children with cleft lip and/or palate have differences in their craniofacial morphology when compared to the general population. This study indicates that these morphologic features differ for CP and CL(P).

Analysis of Variance↗
PubMed2026

Trio-based GWAS reveals loci associated with different forms of isolated cleft lip.

Orofacial clefts (OFCs) are the most common craniofacial birth defect and comprise a diverse group of traits with complex and heterogeneous etiologies. Genetic studies of OFCs typically approach this diversity by stratifying cases into broad diagnostic classes, including cleft lip (CL), cleft palate (CP), and cleft lip with palate (CLP). Although this strategy has yielded important insights into OFC risk, it ignores the phenotypic heterogeneity within each subtype. CL exhibits marked phenotypic variability, involving differences in alveolar involvement, laterality, and sidedness that may reflect distinct etiologies. Given this phenotypic diversity within CL, we assembled a multi-ancestry cohort of 837 nonsyndromic CL case-parent trios with whole-genome sequencing and detailed phenotyping. We performed genome-wide association scans (GWAS) via transmission disequilibrium tests for CL overall and for 14 CL subtypes defined by involvement of the alveolus (with and without), laterality (uni- and bilateral), and sidedness (left and right). We identified four genome-wide significant loci. Two loci, IRF6 and 8q24.21, were both detected in the overall CL GWAS. PLCB1/PLCB4 and MAFB were detected in GWASs of alveolar cleft involvement and CL left sidedness, respectively. These subtype-specific associations were followed by case-only comparisons that reflect the presence or absence of alveolus cleft or left-sided bias of CL to confirm the specificity of the association signal to the particular subtype. Our results provide evidence of within-class CL subtype-specific genetic links for loci previously discussed in the context of primary OFC classes and demonstrate the value of granular OFC subtype characterization to capture trait-specific associations.

Alveolus Cleft↗
PubMed1995

Fetal cleft lip with and without cleft palate: US classification and correlation with outcome.

PURPOSE: To develop a prenatal ultrasonographic (US) classification of cleft lip with or without cleft palate (CL-P) and correlate the classification with fetal outcome. MATERIALS AND METHODS: During a 5-year period (1988 to 1993), 65 fetuses with CL-P were identified with prenatal US at one of two referral centers for high-risk obstetric cases. Sonograms from each case were prospectively and retrospectively evaluated. Clefts were classified into one of five categories: type 1, cleft lip alone (n = 5); type 2, unilateral cleft lip and palate (n = 15); type 3, bilateral cleft lip and palate (n = 20); type 4, midline cleft lip and palate (n = 21); and type 5, facial defects associated with amniotic bands or limb-body-wall complex (n = 4). RESULTS: The US classification correlated with severity of defect and fetal outcome. Type 4 and 5 clefts were universally associated with concurrent anomalies and a fetal outcome, type 1 clefts with a lower rate of anomalies (20%), and type 2 and 3 clefts with intermediate prognosis. Chromosome abnormalities also varied with the type of cleft as follows: type 1, 0%; type 2, 20%; type 3, 30%; type 4, 52%; and type 5, 0%. CONCLUSION: Prenatal classification of fetal CL-P correlates with fetal outcome. This classification should help counseling and management.

Abnormalities, Multiple↗
PubMed1982

A three generation family study of cleft lip with or without cleft palate.

A family study of cleft lip, with or without cleft palate, was based on those treated by operation at The Hospital for Sick Children, London, between 1920 and 1939 in order to give information on the proportion affected of children and grandchildren. The probands were those who had survived, were successfully traced, and found to have had at least one child. Care was taken to exclude patients who were traced through a child, whether normal or affected, and not through the usual tracing procedure. Patients with recognised syndromes were also excluded. Because the series was based on patients who had survived and reproduced it was biased in favour of those with milder degrees of the malformation, and against those with any severe associated malformation. The proportion affected of children of probands was 3.15% (+/- 0.56), of sibs 2.79% (+/- 0.52), and of parents 1.18% (+/- 0.37), respectively. The lower proportion of parents affected is attributed to reduced reproductive fitness of patients born two generations ago. The proportion affected of nephews and nieces, aunts and uncles, and grandchildren was 0.47% (+/- 0.18), 0.59% (+/- 0.13), and 0.8% (+/- 0.6) respectively. The proportion affected of first cousins was 0.27% (+/- 0.08). The birth frequency of cleft lip (+/- cleft palate) is estimated to be about 0.1% in England. There were two first cousin and one second cousin marriages among the marriages of the parents. There was no increase of cleft palate among the relatives of the probands. The proportion of sibs affected increased with increasing severity of the malformation in the proband, where the proband was female, and where the proband had an affected parent or already had one affected sib. It was not, however, increased where a more remote relative was affected. The proportion of children affected was not increased when the proband had an affected parent or sib, but few families provided information. The most economical hypothesis to explain the findings is the multifactorial threshold model. The birth frequency of the malformation and the family patterns found make it improbable that one single mutant gene makes a major contribution to the liability to develop the condition.

Adult↗
PubMed2005

Early cleft lip repair in children with unilateral complete cleft lip and palate: a case against primary alveolar repair.

All children with complete unilateral cleft lip and palate will develop some degree of malocclusion regardless whether the alveolar cleft is repaired primarily or bone grafting is deferred. To evaluate the impact of early gingivoperiosteoplasty on occlusal relationships, dental models were obtained in 5-year-old patients who underwent early cleft lip and palate repair with primary boneless bone grafting (Skoog's method) (56 children) and without alveolar intervention (51 children). The Goslon's occlusion grading system was applied to evaluate occlusal relationships in both groups. Patients with early surgical intervention to repair alveolar cleft demonstrated poor occlusal relationship with the Goslon score 4 and 5, which will likely need an orthognathic corrective procedure (50% vs. 19.6% in patients without early primary dissection of the alveolar process). Results reaffirm that an inclusion of the alveolar process into the early primary lip repair adds to the severity of occlusal maldevelopment.

Alveolar Process↗
PubMedDate not supplied

Association between non-right-handedness and cleft lip with or without cleft palate in a Chinese population.

The etiology of non-syndromic cleft lip with or without cleft palate (CL +/- P) is unclear, although both familial and environmental factors are implicated. Because CL +/- P occurs at approximately the time of brain lateralization and is most often unilateral, developmental asymmetry effects have been postulated in CL +/- P etiology. Handedness is frequently used as an indicator of brain lateralization; therefore, several studies have examined the relationship between cleft laterality and handedness. However, these studies have had conflicting results. The present study investigated handedness in a Chinese sample of 211 non-syndromic CL +/- P surgical probands (ascertained in Shanghai for family studies of CL +/- P), 221 population-based but unmatched controls, and 272 first-degree relatives of the probands. Handedness was assessed by means of laterality quotients (LQ) calculated from questionnaire data. Mean LQ's were compared, as were various arbitrary definitions of handedness based on the LQ, for cases versus controls, males versus females, right-sided versus left-sided clefts, and cleft lip alone versus cleft lip plus cleft palate. CL +/- P cases had a significantly higher proportion of non-right-handedness (NRH) than controls, regardless of the definition of NRH (P values < or = .001). There were no statistically significant differences for any of the other comparisons. Familiarity of NRH was tested by comparing first-degree relatives of cases to controls; first-degree relatives were found to have a significantly higher proportion of NRH than controls, supporting familial effects in NRH. These results support the concept of a common etiology and/or developmental pathway for CL +/- P and handedness.

Case-Control Studies↗
PubMed2003

Genetic association studies of cleft lip and/or palate with hypodontia outside the cleft region.

OBJECTIVE: The purpose of this study was to determine whether the candidate genes previously studied in subjects with cleft lip, cleft palate, or both are associated with hypodontia outside the region of the cleft. SUBJECTS: One hundred twenty subjects from the Iowa Craniofacial Anomalies Research Center were selected based on the availability of both dental records and genotype information. METHOD: The type of orofacial clefting and type and location of dental anomalies (missing teeth, supernumerary teeth, or peg laterals) were assessed by dental chart review and radiographic examination. Genotype analysis of candidate genes was performed using polymerase chain reaction/single-strand conformation polymorphism analysis. RESULTS: The prevalence of hypodontia in this sample was 47.5%, with 30.0% of subjects having missing teeth outside the cleft. There was a positive association between subjects with cleft lip or cleft lip and palate who had hypodontia outside the cleft region (compared with noncleft controls) and both muscle segment homeo box homolog 1 (MSX1) (p =.029) and transforming growth factor beta 3 (TGFB3) (p =.024). It was not possible in this analysis to determine whether this association was specifically associated with orofacial clefting combined with hypodontia or whether it was due primarily to the clefting phenotype. CONCLUSIONS: In this sample, there was a significantly greater incidence of hypodontia outside the cleft region in subjects with cleft lip and palate, compared with cleft lip only or cleft palate only. Cleft lip and/or palate with hypodontia outside the cleft region was positively associated with both TGFB3 and MSX1, compared with noncleft controls.

Anodontia↗
PubMed1989

Test of genetic heterogeneity of cleft lip with or without cleft palate as related to race and severity.

The question of possible heterogeneity among population groups and phenotypic groups on the role of major gene in the etiology of cleft lip with or without cleft palate [CL(P)] was examined using the uniformly collected data in Hawaii. Complex segregation analysis was used to analyze patterns of family resemblance under the mixed model incorporating the effects of major gene and multifactorial inheritance. Analysis of the entire data showed superior fit of the mixed model including the effects of both major gene and multifactorial inheritance over the model of major gene alone or multifactorial inheritance alone. No significant heterogeneity could be detected between the high-incidence group (Oriental or Japanese) and the low-incidence group (non-Oriental) in the underlying general model, although higher heritability was observed in general. When families were classified into "severe" and "mild" phenotypes based on cleft lip vs. cleft lip and palate or unilateral vs. bilateral cleft in the proband, no significant differences could be detected between the two types in the underlying genetic model.

Cleft Lip↗