The Parental Dentocraniofacial Phenotype—An Orofacial Clefting Microform

2010 ◽  
Vol 47 (1) ◽  
pp. 22-34 ◽  
Author(s):  
Peter A. Mossey ◽  
Puneet Batra ◽  
Grant T. McIntyre
Keyword(s):  
Cleft Palate ◽  
Cleft Lip ◽  
Global Strategy ◽  
Reference Database ◽  
Inclusion Criteria ◽  
Orofacial Clefting ◽  
Phenotypic Features ◽  
Isolated Cleft Palate ◽  
Pro Forma

Objective Using the systematic review method, (1) to identify the investigations of the parental dentocraniofacial phenotype in orofacial clefting, (2) synthesize the data to derive a model of the phenotypic features that will assist in the identification of cleft morphogenes, and (3) make recommendations for the future global strategy for researching the parental craniofacial phenotype in orofacial clefting. Search Strategy The Cochrane, Medline (via PubMed and OVID platforms [1966 to December 2006]), Embase, CINAHL, and ASKSAM Orthodontic Reference Database (1950–1997) databases were searched using a combination of the following keywords: microform, parent, craniofacial, dental, and cleft. All published articles were reviewed. There were no exclusions of non-English reports. Of the 36 studies identified using this strategy, 26 met the inclusion criteria. Data Abstraction/Synthesis The statistically significant data were abstracted using a pro forma, and the methodological quality of the selected studies was evaluated using a checklist. There was considerable heterogeneity among the studies, and therefore it was not possible to synthesize the data. We were, however, able to collate the data. Results/Conclusions (1) The craniofacial phenotype possessed by parents of children with orofacial clefting is distinctive when compared with that of the noncleft population. (2) There is insufficient evidence to produce a model of the phenotypic features to assist in the search for orofacial clefting morphogenes. (3) The pattern of expression of the phenotypic features identified to date supports the contention that there are differences in the inheritance of cleft lip with or without cleft palate and isolated cleft palate. Progress in this field is affected by extreme heterogeneity in etiology of cleft lip with or without cleft palate, as well as heterogeneity in study design. (4) Subphenotyping using features such as microforms should be employed to reduce the heterogeneity and to improve the power of future genetic investigations and will also assist in clinical management and genetic counseling for families.

Differentiation between Cleft Lip with or without Cleft Palate and Isolated Cleft Palate Using Parental Cephalometric Parameters

1997 ◽  
Vol 34 (1) ◽  
pp. 27-35 ◽  
Author(s):  
Peter A. Mossey ◽  
John H. Mccoll ◽  
David R. Stirrups
Keyword(s):  
Discriminant Analysis ◽  
Cleft Palate ◽  
Cleft Lip ◽  
Cleft Lip And Palate ◽  
Dental Health ◽  
Craniofacial Morphology ◽  
Stepwise Discriminant Analysis ◽  
Separate Analysis ◽  
Orofacial Clefting ◽  
Isolated Cleft Palate

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 nonsyndromic 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 nonsyndromic 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).

Children with Cleft Lip/Palate and Mental Retardation: A Subpopulation of Cleft-Craniofacial Team Patients

1993 ◽  
Vol 30 (6) ◽  
pp. 548-556 ◽  
Author(s):  
Ronald P. Strauss ◽  
Hillary Broder
Keyword(s):  
African American ◽  
Mental Retardation ◽  
Cleft Palate ◽  
Special Needs ◽  
Cleft Lip ◽  
Cleft Lip Palate ◽  
Caucasian Patients ◽  
Isolated Cleft Palate ◽  
Impaired Speech ◽  
Clinic Population

This study compares a subpopulation of persons with cleft lip/palate who have mental retardation (n = 56) to those with normal learning (n = 420), at a large university-based cleft-craniofacial center. Many of the patients Identified as having mental retardation in this sample have the diagnosis of isolated cleft palate (46.8%). Nearly half (46.3%) of the patients with mental retardation were found to have multiple anomalies, syndromes or associated medical findings. Common findings included cardiopulmonary defects, seizures, and deviations in head size. In this clinic population, mental retardation was found more commonly among African-American patients with clefts, than among Caucasian patients with clefts. Higher rates of facial disfiguration and impaired speech were found in patients with clefts and mental retardation. This research demonstrates that among a population of persons with cleft lip and/or cleft palate, there is a subpopulation of children who also have mental retardation. Craniofacial-cleft teams will need to develop strategies to address the special needs of this group of patients.

Prenatal Diagnosis of Cleft Lip and Palate

2003 ◽  
Vol 40 (2) ◽  
pp. 186-189 ◽  
Author(s):  
N. Johnson ◽  
Jonathan R. Sandy
Keyword(s):  
Prenatal Diagnosis ◽  
Early Diagnosis ◽  
Cleft Lip ◽  
Cleft Lip And Palate ◽  
Reliability And Validity ◽  
Review Article ◽  
Ultrasound Diagnosis ◽  
Orofacial Clefting ◽  
The Impact

Objective The use of ultrasound for the prenatal diagnosis of cleft lip and palate has aided considerably in the early diagnosis of orofacial clefting. The impact and consequences of this need to be considered as the reliability and validity of ultrasound diagnosis increases. This review article considers a number of these issues as well as up-to-date information on the quality of the technique.

Orthodontic-Surgical Approach for Treating Skeletal Class III Malocclusion With Severe Maxillary Deficiency in Isolated Cleft Palate

2018 ◽  
Vol 56 (3) ◽  
pp. 400-407 ◽  
Author(s):  
Kohei Nakatsugawa ◽  
Hiroshi Kurosaka ◽  
Kiyomi Mihara ◽  
Susumu Tanaka ◽  
Tomonao Aikawa ◽  
...  
Keyword(s):  
Cleft Palate ◽  
Surgical Approach ◽  
Orthodontic Treatment ◽  
Cleft Lip ◽  
Cleft Lip And Palate ◽  
Class Iii ◽  
Maxillary Expansion ◽  
Rapid Palatal Expansion ◽  
Isolated Cleft Palate ◽  
Maxillary Deficiency

Orthodontic treatment in patients with orofacial cleft such as cleft lip and palate or isolated cleft palate is challenging, especially when the patients exhibit severe maxillary growth retardation. To correct this deficiency, maxillary expansion and protraction can be performed in the first phase of orthodontic treatment. However, in some cases, the malocclusion cannot be corrected by these procedures, and thus, skeletal discrepancy remains when the patients are adolescents. These remaining problems occasionally require various orthognathic treatments according to the degree of the discrepancy. Here, we describe one case of a female with isolated cleft palate and hand malformation who exhibited severe maxillary deficiency until her adolescence and was treated with multiple orthognathic surgeries, including surgically assisted maxillary expansion (surgically assisted rapid palatal expansion), LeFort I osteotomy, and bilateral sagittal split osteotomy in order to correct severe skeletal discrepancy and malocclusion. The treatment resulted in balanced facial appearance and mutually protected occlusion with good stability. The purpose of this case report is to show the orthodontic treatment outcome of 1 patient who exhibited isolated cleft palate and subsequent severe skeletal deformities and malocclusion which was treated by an orthodontic-surgical approach.

Pattern of Cleft Lip and Palate in Hospital-Based Population in Saudi Arabia: Retrospective Study

2008 ◽  
Vol 45 (6) ◽  
pp. 592-596 ◽  
Author(s):  
Aziza Aljohar ◽  
Kandasamy Ravichandran ◽  
Shazia Subhani
Keyword(s):  
Saudi Arabia ◽  
Cleft Palate ◽  
Cleft Lip ◽  
Cleft Lip And Palate ◽  
Tertiary Care ◽  
Positive Family History ◽  
Care Hospital ◽  
Associated Anomalies ◽  
Cleft Lip Palate ◽  
Isolated Cleft Palate

Objective: To report the patterns of cleft lip and/or cleft palate in Saudi Arabia from data collected at a tertiary care hospital. Design and Setting: King Faisal Specialist Hospital and Research Center, Riyadh. Patients: All the cleft lip and/or cleft palate patients registered in the Cleft Lip/Palate and Craniofacial Anomalies Registry from June 1999 to December 2005. Results: Retrospectively, 807 cases of cleft lip and/or palate were registered. There were 451 boys and 356 girls. Cleft lip and palate was more common (387) than isolated cleft palate (294) and isolated cleft lip (122). Boys predominated in cleft lip and palate and cleft lip; whereas, girls predominated in isolated cleft palate, with boy to girl ratios of 1.6:1, 1.2:1, and 0.9:1 for cleft lip and/or palate, isolated cleft lip, and isolated cleft palate, respectively. The Riyadh region had more cases (32.0%) than the Asir (15.6%) and Eastern (14.6%) regions. Parents of 439 individuals had consanguineous marriages. A positive family history of cleft was seen in 224 cases. Of 238 cases with associated anomalies, 91 had congenital heart disease. Of the children with isolated cleft palate, 40.5% had associated anomalies, whereas only 23.0% of the children with isolated cleft lip or cleft lip and palate had associated malformations. Conclusion: The pattern of cleft observed in this study does not differ significantly from those reported in the literature for Arab populations.

scholarly journals Susceptibility to phenytoin-induced cleft lip with or without cleft palate: many genes are involved

1987 ◽  
Vol 49 (1) ◽  
pp. 43-49 ◽  
Author(s):  
I. Jill Karolyi ◽  
Sharon Liu ◽  
Robert P. Erickson
Keyword(s):  
Glucocorticoid Receptor ◽  
Cleft Palate ◽  
Recombinant Inbred ◽  
Cleft Lip ◽  
Inbred Strains ◽  
Cyclic Monophosphate ◽  
Major Histocompatibility Locus ◽  
Inbred Strains Of Mice ◽  
Histocompatibility Locus ◽  
Isolated Cleft Palate

SummaryIn a search for genetic differences in susceptibility to cleft lip with or without cleft palate [CL(P)], congenic and recombinant inbred strains of mice were treated with phenytoin or control injections. Of six loci tested, five were found to affect susceptibility to phenytoin-induced and/or sporadic CL(P): (1) the major histocompatibility locus, H-2; (2) the locus controlling β2-microglobulin, B2m; (3) a locus controlling β-glucuronidase, Gus; (4) the locus controlling N-acetyl transferase, Nat; and (5) the locus for brown pigmentation, b. B2m and Gus only affected the sporadic incidence of CL(P), while the b locus only affected phenytoin-induced incidence of CL(P). Three of these loci are also known to affect glucocorticoid-induced isolated cleft palate (CP), but different alleles of the loci are involved. Phenytoin did not affect levels of adenosine 3′,5′-cyclic monophosphate (cAMP) in palates and tongues of day 15 fetuses. A comparison of glucocorticoid receptor parameters with the incidence of phenytoin-induced CL(P) found no correlation.

scholarly journals MSX1 and Orofacial Clefting with and without Tooth Agenesis

2006 ◽  
Vol 85 (6) ◽  
pp. 542-546 ◽  
Author(s):  
A. Modesto ◽  
L.M. Moreno ◽  
K. Krahn ◽  
S. King ◽  
A.C. Lidral
Keyword(s):  
Cleft Palate ◽  
Cleft Lip ◽  
Regulatory Elements ◽  
Tooth Agenesis ◽  
Linkage Studies ◽  
Orofacial Clefting ◽  
Expression Studies ◽  
Study Population ◽  
Strong Candidate

MSX1 has been considered a strong candidate for orofacial clefting, based on mouse expression studies and knockout models, as well as association and linkage studies in humans. MSX1 mutations are also causal for hereditary tooth agenesis. We tested the hypothesis that individuals with orofacial clefting with or without tooth agenesis have MSX1 coding mutations by screening 33 individuals with cleft lip with or without cleft palate (CL/P) and 19 individuals with both orofacial clefting and tooth agenesis. Although no MSX1 coding mutations were identified, the known 101C>G variant occurred more often in subjects with both CL/P and tooth agenesis (p = 0.0008), while the *6C-T variant was found more often in CL/P subjects (p = 0.001). Coding mutations in MSX1 are not the cause of orofacial clefting with or without tooth agenesis in this study population. However, the significant association of MSX1 with both phenotypes implies that MSX1 regulatory elements may be mutated.

Birth weight and gestational age of newborns with cleft lip with or without cleft palate and with isolated cleft palate

2004 ◽  
Vol 27 (2) ◽  
pp. 185-190 ◽  
Author(s):  
Diego Wyszynski ◽  
Andrea Sarkozi ◽  
Peter Vargha ◽  
Andrew Czeizel
Keyword(s):  
Birth Weight ◽  
Cleft Palate ◽  
Gestational Age ◽  
Premature Birth ◽  
Cleft Lip ◽  
Very Low Birth Weight ◽  
Elevated Risk ◽  
Healthy Controls ◽  
Oral Clefts ◽  
Isolated Cleft Palate

The birth weight and gestational age of 1368 newborns with isolated cleft lip with or without cleft palate and 582 with isolated cleft palate were compared to those of matched healthy controls. The results indicate that fetuses with oral clefts are at elevated risk of having low and very low birth weight, but not of having a premature birth. Speculations on a relationship between these findings and the presence of oral clefts are presented.

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