Difference between revisions of "Talk:Abnormal Development - Cleft Lip and Palate"
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:The first most commonly accepted classification was presented by Kernahan and Stark (
:The first most commonly accepted classification was presented by Kernahan and Stark () in 1958, who described all common types of cleft lip/palate, complete unilateral cleft lip/palate and the isolated posterior cleft palate in a symbolic classification system. To describe the unusual types of cleft deformities, Kernahan modified his classification into symbolic striped ‘Y’ classification in 1971, which still had many shortcomings (ie, recording asymmetric deformities in bilateral cleft lip, inadequate detail for assessment of palatal deformities associated with speech results and rates of fistula formation and potentially misread data that was difficult to analyze by computer). The striped ‘Y’ classification was further modified by Millard in 1977 (1).
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Cleft Lip Palate
Functional Significance of MMP3 and TIMP2 Polymorphisms in Cleft Lip/Palate
J Dent Res. 2014 May 5. [Epub ahead of print]
Letra A1, Zhao M, Silva RM, Vieira AR, Hecht JT.
Evidence from biological and human studies strongly supports a role for MMP and TIMP genes as candidate genes for non-syndromic cleft lip with or without cleft palate (NSCL/P). We previously showed the association of promoter polymorphisms in MMP3 (rs3025058 and rs522616) and TIMP2 (rs8179096) with NSCL/P. In this study, we examined the functional significance of these polymorphisms. A specific DNA-protein complex for MMP3 rs522616 A was detected, and this allele by itself showed greater promoter activity than the G allele. However, the effect of rs522616 was ultimately regulated by the rs3025058 allele on the background. For TIMP2 rs8179096, the T allele showed a 2.5-fold increase in promoter activity when compared with allele C, whereas both C and T alleles were found to bind to nuclear factor kappa B. Our results provide new evidence that promoter polymorphisms in MMP3 and TIMP2 are functional and may affect gene transcription with possible effects on craniofacial development leading to NSCL/P. KEYWORDS: EMSA, MMP, TIMP, luciferase, oral cleft, single nucleotide polymorphism
A revised classification of the cleft lip and palate
Can J Plast Surg. 2013 Spring;21(1):48-50.
Khan M, Ullah H, Naz S, Iqbal T, Ullah T, Tahir M, Ullah O.
Abstractin English, French
BACKGROUND: Submucous cleft palate is characterized by muscular diastasis of the velum in the presence of intact mucosa with variable combinations of bifid uvula and hard palatal defect. Submucous cleft palate is indicated as a separate entity in most previous classifications but it has never been properly classified on an anatomical basis. OBJECTIVES: To revise the Smith-modified Kernahan 'Y' classification of cleft lip and palate deformities, and to describe the different anatomical subtypes of submucous cleft palate. METHODS: The present study was conducted in Hayatabad Medical Complex, Abasin Hospital and Aman Hospital Peshawar, Pakistan, from November 2010 to December 2011. All patients who presented to the outpatient departments with cleft lip and palate, with the exception of previously operated cases, were included. All cases were described according to the Smith-modified Kernahan 'Y' classification and the authors' revised Smith-modified Kernahan 'Y' classification. All of the data were organized and analyzed using SPSS version 17 (IBM Corporation, USA). RESULTS: A total of 163 cases of cleft lip and palate deformities were studied, of which 59.5% were male and 40.5% were female. Smith modification of the Kernahan 'Y' classification completely described the cleft deformities in 93.9% of patients. However, while the Kernahan 'Y' classification represented the submucous cleft palate, it did not describe its different anatomical subtypes in 6.13% of patients. The revised Smith-modified Kernahan 'Y' classification completely described the cleft deformities of the entire study population, including the different submucous cleft palate patients. DISCUSSION: The Smith alphanumeric modification of the Kernahan 'Y' classification of cleft lip and palate came into existence after a long search and a series of modifications over the past century. This classification system describes the cleft region, site of the cleft, degree of the cleft, rare and asymmetrical clefts, and are computer database friendly. However, this classification did not describe the different anatomical subtypes of submucous cleft palate that have variable relationships with velopharyngeal insufficiency. CONCLUSION: The revised Smith-modified Kernahan 'Y' classification described in the present study can describe all types of cleft lip and palate deformities in addition to the different types of submucous cleft palate deformities. KEYWORDS: Cleft lip, Cleft palate, Submucous cleft palate, Velopharyngeal insufficiency
- The first most commonly accepted classification was presented by Kernahan and Stark (PMID 17760488) in 1958, who described all common types of cleft lip/palate, complete unilateral cleft lip/palate and the isolated posterior cleft palate in a symbolic classification system. To describe the unusual types of cleft deformities, Kernahan modified his classification into symbolic striped ‘Y’ classification in 1971, which still had many shortcomings (ie, recording asymmetric deformities in bilateral cleft lip, inadequate detail for assessment of palatal deformities associated with speech results and rates of fistula formation and potentially misread data that was difficult to analyze by computer). The striped ‘Y’ classification was further modified by Millard in 1977 (1).
- To compensate for the shortcomings of the Kernahan striped ‘Y’ classification, Smith et al (PMID 9810977) modified it in 1998, providing more detailed description of the cleft deformities.
The origin and early development of the nasal septum in human embryos
Ann Anat. 2010 Apr 20;192(2):82-5. Epub 2010 Jan 25. Steding G, Jian Y. Source Centre of Anatomy, Georg August University Goettingen, Kreuzbergring 36, 37075 Goettingen, Germany.
Based on scanning electron microscopic dissections of human embryos and fetuses of the sixth to the twelfth week (Carnegie stages 16-23 and early fetus), the origin of the nasal septum was studied. The findings show that the nasal septum does not grow downwards. It is derived from the tissue between the primary choanae: as such, its anlage is present from the very beginning. Its contact and fusion with the palatal shelves is made possible by the elevation of the palatal shelves from the vertical into the horizontal position, as the tongue descends. Copyright 2010 Elsevier GmbH. All rights reserved.
Incidence of cleft Lip and palate in the state of Andhra Pradesh, South India
Indian J Plast Surg. 2010 Jul;43(2):184-9.
Reddy SG, Reddy RR, Bronkhorst EM, Prasad R, Ettema AM, Sailer HF, Bergé SJ.
SourceGSR Institute of Craniofacial Surgery, Hyderabad, Andhra Pradesh, India.
Abstract OBJECTIVE:To assess the incidence of cleft lip and palate defects in the state of Andhra Pradesh, India.DESIGN SETTING:The study was conducted in 2001 in the state of Andhra Pradesh, India. The state has a population of 76 million. Three districts, Cuddapah, Medak and Krishna, were identified for this study owing to their diversity. They were urban, semi-urban and rural, respectively. Literacy rates and consanguinity of the parents was elicited and was compared to national averages to find correlations to cleft births. Type and side of cleft were recorded to compare with other studies around the world and other parts of India.RESULTS:The birth rate of clefts was found to be 1.09 for every 1000 live births. This study found that 65% of the children born with clefts were males. The distribution of the type of cleft showed 33% had CL, 64% had CLP, 2% had CP and 1% had rare craniofacial clefts. Unilateral cleft lips were found in 79% of the patients. Of the unilateral cleft lips 64% were left sided. There was a significant correlation of children with clefts being born to parents who shared a consanguineous relationship and those who were illiterate with the odds ratio between 5.25 and 7.21 for consanguinity and between 1.55 and 5.85 for illiteracy, respectively.CONCLUSION:The birth rate of clefts was found to be comparable with other Asian studies, but lower than found in other studies in Caucasian populations and higher than in African populations. The incidence was found to be similar to other studies done in other parts of India. The distribution over the various types of cleft was comparable to that found in other studies.
Epidemiologic factors causing cleft lip and palate and their regularities of occurrence in Estonia
Jagomagi T, Soots M, Saag M.
Department of Stomatology, Faculty of Medicine, University of Tartu, Kastani 16, Tartu 50410, Estonia. firstname.lastname@example.org.
Abstract OBJECTIVES. To study epidemiological factors causing development of cleft lip and palate and their occurrence regularities. MATERIALS AND METHODS. This study included 583 cleft lip and palate patients and the information for statistical analyses was gathered from Tartu University Hospital. RESULTS. 19% of the patients had a cleft lip (CL), 39% of the patients had a cleft palate (CP), and 42 % of the patients had a cleft lip and palate (CLP). The ratio for different cleft types CL: CLP: CP was 1:2:2. In unilateral CLP and CL cases, the left side was affected 2.2 times more frequently than the right side. Boys had a CLP nearly 2.1 times more often than girls. CP was more common for girls (60%) than for boys (40%). 30% of children had multiple malformations. 2.6% of children with clefts were born premature, half of which had accompanying developmental anomalies. The average birth weight for cleft child was ~ 3400 grams. 6.8% of children with clefts had a birth weight below 2.5 kg. In case of children with clefts, the mother's age exceeded 30 years in 1/4 of cases and father's age in 1/3 of cases. Both parents were older than 30 years in 66% of the cases. 1/5 of both parents were older than 30 years. 1/3 of mothers of children with clefts had suffered psychological stress, 1/5 of mothers had done hard physical work. 1/5 of mothers had an exposure to teratogenic toxic substances. 15% of them received medications during the first trimester of pregnancy. 15% of mothers had experienced hormonal disorders. CONCLUSIONS. As a result of the study we found a high occurrence rate of CP (CL: CLP: CP - 1:2:2), which is similar to the studies conducted in Finland and Sweden. The reasons for this ratio need further research.
A genome-wide association study of cleft lip with and without cleft palate identifies risk variants near MAFB and ABCA4
Nat Genet. 2010 Jun;42(6):525-9. Epub 2010 May 2.
Beaty TH, Murray JC, Marazita ML, Munger RG, Ruczinski I, Hetmanski JB, Liang KY, Wu T, Murray T, Fallin MD, Redett RA, Raymond G, Schwender H, Jin SC, Cooper ME, Dunnwald M, Mansilla MA, Leslie E, Bullard S, Lidral AC, Moreno LM, Menezes R, Vieira AR, Petrin A, Wilcox AJ, Lie RT, Jabs EW, Wu-Chou YH, Chen PK, Wang H, Ye X, Huang S, Yeow V, Chong SS, Jee SH, Shi B, Christensen K, Melbye M, Doheny KF, Pugh EW, Ling H, Castilla EE, Czeizel AE, Ma L, Field LL, Brody L, Pangilinan F, Mills JL, Molloy AM, Kirke PN, Scott JM, Arcos-Burgos M, Scott AF.
Johns Hopkins University, School of Public Health, Baltimore, Maryland, USA. email@example.com Erratum in:
Nat Genet. 2010 Aug;42(8):727. Scott, James M [corrected to Scott, John M]. Abstract Case-parent trios were used in a genome-wide association study of cleft lip with and without cleft palate. SNPs near two genes not previously associated with cleft lip with and without cleft palate (MAFB, most significant SNP rs13041247, with odds ratio (OR) per minor allele = 0.704, 95% CI 0.635-0.778, P = 1.44 x 10(-11); and ABCA4, most significant SNP rs560426, with OR = 1.432, 95% CI 1.292-1.587, P = 5.01 x 10(-12)) and two previously identified regions (at chromosome 8q24 and IRF6) attained genome-wide significance. Stratifying trios into European and Asian ancestry groups revealed differences in statistical significance, although estimated effect sizes remained similar. Replication studies from several populations showed confirming evidence, with families of European ancestry giving stronger evidence for markers in 8q24, whereas Asian families showed stronger evidence for association with MAFB and ABCA4. Expression studies support a role for MAFB in palatal development.