The incidence of cleft palate was observed in 1361 F₁, 1531 F₂, and 2275 backcross embryos and chicks from a reciprocal cross between an inbred Leghorn line selected for high incidence (30 to 50%) of cleft palate and a non-cleft palate (New Hampshire; zero %) line. Cleft palate appeared in the F₁ at frequencies less than 1%, in the F₂ at approximately 1%, and in the backcrosses at approximately 8%. When dams were fed a diet deficient in riboflavin, the incidence of cleft palate was shown to increase for the F₂ and backcross progeny to 4% and 12% respectively. The response of cleft palate incidence to riboflavin deficiency was shown to be in large part a genetic characteristic of the embryo itself and not the dam. The reduced hatchability of eggs during maternal riboflavin deficiency was shown to be similar to earlier reports. No evidence of any unusual response of cleft palate line hens to riboflavin deficiency was found for hatchability, chick body weight, nor maternal effect on cleft palate. The cleft palate condition was shown to be semi-lethal, the lethality being partially due to severe expression of the trait. Genetic models were considered and it was suggested that the model to be further tested should be that of 3 recessive loci, one of which involves a fault in the normal metabolism of riboflavin, and a few additive loci controlling penetrance and expressivity of the trait. / Land and Food Systems, Faculty of / Graduate

Indiana University-Purdue University Indianapolis (IUPUI) / Isolated cleft palate is one of the most frequent congenital conditions that affect the oral and facial structures, yet its etiology remains obscure. Previous studies of both cleft palate (CP) and cleft lip and/ or palate [CL(P)] have shown that there may be unusual facial characteristics among the parents of such sporadic cases. Such findings have been used to support the possibility that there are predisposing familial (genetic) factors for both conditions. However, previous studies have generally not controlled for the possibility of genetic heterogeneity or for different contributions from each of the parents. The objective of this study is to examine parents of individuals with CP in order to test the hypothesis that these "non cleft" individuals have abnormal facial structures. Lateral (LA) and Posterior-Anterior (PA) cephalograms were examined from thirty parents of fifteen individuals with sporadic CP. Seventeen LA and twenty-five PA variables were obtained on each subject and converted to standardized "z-scores" through comparison to published age and sex matched reference data. Multivariate cluster analysis was used to define groupings of individuals who shared similar patterns of facial features. Results demonstrate that as a group, relatives of CP individuals show significantly different patterns of facial measurements compared to reference norms. Values significantly larger (p < 0.05) fro1n parental data included: ANS-Me, PNS-ANS, S-N-Pg, Ar-Go-Me, MoL-MoR, NSR-NCR. Values significantly smaller (p < 0.05) from parents included: N-ANS, S-Ba, PNS-ANS/ N-ANS, PNS-ANS/ N-Pg, N-S-Ba, ZyL-ZyR, GoL-GoR, GoNL-GoNR, CRO-CNS, CNS-SD, CNS-Me, ID-Me, MxR-ZyR, Me-GoR. These findings were not entirely consistent with those few previously reported findings. Additional analysis of the present data demonstrated that such inconsistencies may be due in part to the presence of distinct phenotypic sub groupings within the parental sample. Cluster analysis identified two such subgroups. Significant findings (p < 0.05) that were smaller for Cluster 1 relative to Cluster 2 included: N-Me, ANS-Me, S-Go, PNS-ANS, Ar-Go, CNS-SD, MxR-ZyR. Significant variables that were larger for Cluster 1 included: S-N-Pg. In addition, gender was significantly different across clusters with Cluster 1 containing 75 percent female individuals and Cluster 2 containing 67 percent male individuals. These results extend those reported in other studies by demonstrating that unusual facial patterns, when present are not uniformly distributed in parents of sporadic cases of CP. Phenotypic assessment in conjunction with multivariate analysis may help to identify families in which there is a significant heritable component for CP.

No description available.

Babies with cleft lip and palate which is a common craniofacial deformity suffer from feeding problem which interfere with their growth and development and render the subsequent corrective surgery and also endure their daily suffering during the feeding time. This thesis reports the design of anew bottle feed to overcome this problem. Also a clinical study was preformed to study the patterns of baby feed in cleft lip and palate babies to support the use of the bottle feeding for this group of babies.

Akademisk avhandling--Uppsala. / Extra t.p. with thesis statement inserted. Bibliography: p. 72-79.

published_or_final_version / Dentistry / Master / Master of Dental Surgery

No description available.

Cleft palate affects approximately 1 in 2000 live births resulting in considerable morbidity to affected individuals and their families. Evidence that the p63 gene is mutated in at least seven human developmental syndromes which are each characterised by varying extents of orofacial clefting, coupled to the severe facial dysmorphism displayed by the p63 mutant mouse, highlight the need to elucidate the role of the p63 during normal and aberrant palatogenesis. In mice, secondary palate development closely mirrors that occurring in humans; consequently, the mouse is a pre-eminent model organism for studying palatogenesis. In mice, the palatal shelves initiate from the maxillary processes and grow vertically, lateral to the tongue. The shelves re-orientate and make contact above the tongue. The medial edge epithelia (MEE) of the apposed palatal shelves adhere to form a midline epithelial seam (MES). Subsequent degeneration of the MES allows mesenchymal confluence across the palate, at which point palatogenesis is considered complete. The mechanisms underlying degeneration of the MES remain contentious; however, in vivo studies suggest that cessation of proliferation, induction of apoptosis and periderm migration are essential to ensure removal of the midline seam. The data presented in this thesis uncover a key role for p63 in controlling these aspects of cell behaviour during palatal shelf fusion. Tgfb3-/- mice exhibit cleft palate with maintained expression of p63 in the MEE. This thesis reveals that epistatically lowering the dosage of p63 in Tgfb3-/- mice rescues this fusion defect, facilitating periderm cell migration out of the MEE and subsequent MES degradation. Recent research suggests that p63 orchestrates a cell adhesion network in the palate. In this context, this thesis suggests the importance of p63 down-regulation in the MES in compromising adhesion at the basal-periderm border, thereby allowing periderm cell migration out from the midline and subsequent MES degradation. To test the hypothesis that down-regulation of p63 is essential for palatal fusion, tetracycline-inducible transgenic animals in which ΔNp63α is targeted to the MEE of the developing palate have been engineered. ΔNp63α bi-transgenic mice presented with cleft palate in which the MES failed to degenerate. An observed lack of apoptotic activity in the MEE of ΔNp63α bi-transgenic mice suggested a role for p63-mediated apoptosis during MES degradation. Gene ontology analysis of a complete range of ΔNp63α transcriptional targets which have been identified in the secondary palate by ChIP-seq, lent support to this hypothesis. The data indicate that p63 down-regulation in the MES is essential to ensure complete removal of the MES and implicate p63 as a key regulator of apoptosis during this process; thereby building on work which suggests that cell death is the major fate of the MEE. In addition to dissecting a pathway of fundamental importance in secondary palate development, this research provides insights into ectodermal development more generally and has wider significance for the study of many congenital malformations.

Thesis (M.S.)--Boston University / PLEASE NOTE: Boston University Libraries did not receive an Authorization To Manage form for this thesis or dissertation. It is therefore not openly accessible, though it may be available by request. If you are the author or principal advisor of this work and would like to request open access for it, please contact us at open-help@bu.edu. Thank you. / 2031-01-01

BACKGROUND AND SIGNIFICANCE: Almost 15% of newborns have congenital anomalies that involve the oral and craniofacial regions, but of these congenital anomalies, cleft lip and palate and craniosynostosis are the most common. It is estimated that the incidence of cleft lip and palate is 0.664 in 1000 live births. These patients commonly have skeletal imbalances of the maxillae and mandible that require surgical and orthodontic correction. Orthodontists and oral surgeons play a critical role in identifying the necessary care and ensuring that the patient receives the best quality of care possible. OBJECTIVES: The objective of the current study is to examine the prevalence of adverse effects of medical care and infectious complications in patients with cleft lip/palate undergoing facial bone repairs/orthognathic surgeries in the United States during the years 2012 to 2014. It will also examine the association between patient/hospital related factors and surgical outcomes (including adverse affects of surgery, incidence of infection, etc.) and how these surgical outcomes impact the hospital costs and length of stay in the hospital. MATERIALS AND METHODS: The Nationwide Inpatient Sample (NIS) is a 20% stratified probability sample of hospitalizations occurring in all acute care hospitals in the United States. It is part of the Healthcare Cost and Utilization Project (HCUP) sponsored by the Agency for Healthcare Research and Quality (AHRQ) [12]. Each hospital in this sample provides information on 20% of hospitalizations occurring during the select years. Hospital stratification is based on multiple hospital-associated variables including: hospital location, geographic region, bed size, teaching status, and ownership/control. Each hospitalization is assigned a sampling weight. Patient-related variables are also provided by the hospitals. In this study, this information is used to provide a nationally representative estimate of all hospitalizations and associated outcomes in the United States from 2012-2014. RESULTS: This study includes all 1,785 patients with cleft lip/palate undergoing facial bone repair/orthognathic surgical procedures in the United States during the study period (2012-2014). These results confirm the hypothesis that there are a combination of patient and hospital related factors that contribute to the occurrence of adverse events and that the occurrence of these events is associated with substantial increases in hospital charges and length of hospital stay. CONCLUSION: These study results are a national representative sample of patients with cleft lip/palate undergoing bony facial repair and orthognathic surgery. They reflect the practice patterns and hospitalization outcomes across the United States. These results can serve as a platform for future prospective controlled studies to examine the risk factors associated with adverse effects of medical care for a wide range of surgical procedures. This information is useful for clinicians, health policy makers, and patients so that they can make informed treatment and policy decisions as well as continue to improve surgical procedures and outcomes.