The aetiology and pathogenesis of craniofacial deformity

Development ◽  
1988 ◽  
Vol 103 (Supplement) ◽  
pp. 207-212
Author(s):  
David Poswillo
Keyword(s):  
Neural Crest ◽  
Animal Studies ◽  
Cleft Lip ◽  
Cleft Lip And Palate ◽  
Treacher Collins Syndrome ◽  
Apert Syndrome ◽  
Craniofacial Malformations ◽  
Craniofacial Microsomia ◽  
Animal System ◽  
Isolated Cleft Palate

Craniofacial malformations have been recorded since time immemorial. While observational studies have assisted in the recognition of syndromes, little light has been shed on the causal mechanisms which interfere with craniofacial development. Animal studies in which malformations occur spontaneously or have been induced by teratogenic agents have permitted step-by-step investigation of such common deformities as cleft lip and palate. The role of the ectomesenchymal cells of the neural crest and the possible phenomenon of disorganized spontaneous cell death are described in relation to lip clefts. The factors associated with isolated cleft palate, Pierre Robin syndrome and submucous clefts are described by reference to animal models. The haemorrhagic accident preceding the onset of craniofacial microsomia is discussed as is the distinctly different phenomenon of disturbance to the migration or differentiation of neural crest cells in the pathogenesis of Treacher Collins syndrome. The more severe anomalies of the calvarium such as plagiocephaly, Crouzon and Apert syndrome still defy explanation, in the absence of an appropriate animal system to study; some thoughts on the likely mechanism of abnormal sutural fusions are discussed.

Intraoral scanning of neonates and infants with craniofacial disorders: feasibility, scanning duration, and clinical experience

2021 ◽  
Author(s):  
Christina Weise ◽  
Karin Frank ◽  
Cornelia Wiechers ◽  
Hannes Weise ◽  
Siegmar Reinert ◽  
...  
Keyword(s):  
Success Rate ◽  
Cleft Lip ◽  
Cleft Lip And Palate ◽  
Treacher Collins Syndrome ◽  
Digital Impression ◽  
Craniofacial Malformations ◽  
Small Children ◽  
Intraoral Scanning ◽  
Significant Difference ◽  
Mandibular Retrognathia

Summary Objective The aim of this study was to evaluate intraoral scanning (IOS) in infants, neonates, and small children with craniofacial anomalies for its feasibility, scanning duration, and success rate. Impression taking in vulnerable patients can be potentially life-threatening, with the risk of airway obstruction and aspiration of impression material. The advantage of increasingly digitalized dentistry is demonstrated. Materials and methods IOS was captured with the Trios 3® (3Shape, Copenhagen, Denmark) intraoral scanner. The underlying disorders were divided into cleft lip and palate (CLP), Trisomy 21 (T21), Robin Sequence (RS), Treacher Collins syndrome (TC), and isolated mandibular retrognathia (MR). Scan data were analysed by scanning duration, number of images, possible correlations of these factors with the different craniofacial disorders, patient age, and relationship between first and subsequent scans. Clinical experiences with the repeated digital impressions are described. Results Patient data of 141 scans in 83 patients were analysed within an 11-month period. Patients had a median age of 137 days. Median scanning duration was 138 seconds, resulting in a median of 352 images. There was a statistically significant difference in scanning duration (P = 0.001) between infants and neonates. IOS took longest in patients with CLP (537 seconds) and shortest in T21 patients (21 seconds), although there was no statistically significant difference between aetiologies. There was no statistically significant difference between first and subsequent scans in scanning duration. In four cases the IOS had to be repeated, and one patient ultimately required conventional impression taking (all CLP patients; success rate 94%). No severe adverse events occurred. Conclusion IOS is a fast, safe, and feasible procedure for neonates, small children, and infants with craniofacial malformations. One special challenge for both technician and user was identified in patients with CLP, though implementing this new approach of digital impression taking was otherwise found to be highly successful in everyday clinical routine.

Longitudinal Study on the Changes of Maxillary Arch Dimensions in Japanese Children with Cleft Lip and/or Palate: Infancy to 4 Years of Age

1995 ◽  
Vol 32 (2) ◽  
pp. 149-155 ◽  
Author(s):  
Yasuo Honda ◽  
Akira Suzuki ◽  
Masamichi Ohishi ◽  
Hideo Tashiro
Keyword(s):  
Cleft Lip ◽  
Cleft Lip And Palate ◽  
Lateral Displacement ◽  
Growth Patterns ◽  
Posterior Displacement ◽  
Arch Width ◽  
Dental Hospital ◽  
Growth Changes ◽  
Isolated Cleft Palate ◽  
Maxillary Arch

The focus of this study was an analysis of maxillary arch growth changes prior to the time of cheiloplasty up to 4 years of age. Serial dental casts were obtained and measured in 95 children with cleft lip and palate, or both: 7 unilateral cleft lip and alveolus (CLA), 52 unilateral cleft lip and palate (UCLP), 24 bilateral cleft lip and palate (BCLP), and 12 isolated cleft palate (CP). The children were treated at the Kyushu University Dental Hospital. The results are as follows: (1) Prior to cheiloplasty, the maxillary buccal segments in the subjects with cleft lip and palate showed lateral displacement. The premaxilla in BCLP subjects was protruded. (2) Cheiloplasty influenced maxillary anterior arch width, but not posterior width. The operation caused posterior displacement of the premaxilla in BCLP subjects. (3) Palatoplasty affected the growth of the maxillary arch in the transverse and anteroposterior dimensions. (4) A variety of growth patterns observed in the patients (e.g., increasing or decreasing of the maxillary arch dimensions) suggests that maxillary arch dimensions were affected not only by surgery, but also by other individual factors such as genetic facial pattern and severity of the cleft.

Birth Weight, Body Length, and Cranial Circumference in Newborns with Cleft Lip or Palate

1998 ◽  
Vol 35 (3) ◽  
pp. 255-261 ◽  
Author(s):  
Magnus Becker ◽  
Henry Svensson ◽  
Bengt Källén
Keyword(s):  
Birth Weight ◽  
Body Length ◽  
Cleft Lip ◽  
Cleft Lip And Palate ◽  
Statistical Significance ◽  
The Body ◽  
Control Subjects ◽  
Study Population ◽  
Isolated Cleft Palate ◽  
Pierre Robin

Objective This paper reports on birth weight, body length, body mass index, and cranial circumference at birth of infants with cleft lip and/or palate born between 1973 and 1992. Methods Data were obtained from two nationwide swedish health registries. Infants with syndromes, twins, and infants with immigrant parentage were excluded from the study. Comparisons were made with all singleton births with the same exclusion criteria (n = 2,031,140). Results The body dimensions of infants with isolated cleft lip (n = 865) were found not to differ from those of control subjects, but infants with isolated cleft palate (n = 811) or cleft lip and palate (n = 1139) were found to be lighter and shorter than control subjects. Also, infants with the Pierre Robin sequence (n = 121) had a tendency to be lighter and shorter than control subjects, but these differences did not reach statistical significance despite the large study population.

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.

Lobar Holoprosencephaly with a Median Cleft: Case Report

2009 ◽  
Vol 46 (5) ◽  
pp. 549-554 ◽  
Author(s):  
Elżbieta Gawrych ◽  
Joanna Janiszewska-Olszowska ◽  
Anna Walecka ◽  
Maria Syryńska ◽  
Hanna Chojnacka
Keyword(s):  
Cleft Lip ◽  
Cleft Lip And Palate ◽  
Brain Abnormalities ◽  
Facial Deformity ◽  
Unique Case ◽  
Craniofacial Malformations ◽  
Live Births ◽  
Facial Defects ◽  
Median Cleft

Holoprosencephaly is a congenital abnormality of the prosencephalon associated with median facial defects. Its frequency is 1 in 250 pregnancies and 1 in 16,000 live births. The degree of facial deformity usually correlates with the severity of brain malformation. Early mortality is prevalent in severe forms. This report presents a child with lobar holoprosencephaly accompanied by median cleft lip and palate. The treatment and 9 months’ follow-up are presented. This unique case shows that holoprosencephaly may present different manifestations of craniofacial malformations, which are not always parallel to the severity of brain abnormalities. Patients with mild to moderate brain abnormalities may survive into childhood and beyond.

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 Cárie Dentária em Indivíduos com Fissuras Labiopalatinas: Revisão de Literatura

UNICIÊNCIAS ◽  
2021 ◽  
Vol 24 (1) ◽  
pp. 112-117
Author(s):  
Andreza Maria Fábio Aranha ◽  
Amanda Alves de Oliveira ◽  
Alexandre Meireles Borba ◽  
Luiz Evaristo Ricci Volpato
Keyword(s):  
Oral Health ◽  
Dental Caries ◽  
Cleft Palate ◽  
Cleft Lip ◽  
Cleft Lip And Palate ◽  
Public Health Practice ◽  
Well Being ◽  
Individualized Approach ◽  
Genetic And Environmental Factors ◽  
Isolated Cleft Palate

As fissuras labiopalatinas (FLP) são as malformações congênitas mais comuns da região craniofacial e apresentam diferentes fenótipos e características clínicas, que diferem entre si de acordo com as estruturas anatômicas envolvidas: fissura de lábio, fissura de lábio e palato e fissura de palato isolada. A etiologia das FLP é multifatorial e inclui fatores genéticos e ambientais. O objetivo do presente estudo foi investigar o papel das fissuras labiopalatinas na prevalência de cárie dentária por meio de uma revisão na literatura. O defeito anatômico que envolve o rebordo alveolar e/ou o palato pode resultar em agenesias dentárias, dentes supranumerários, anomalias de forma e estrutura, bem como atresia maxilar, mordidas cruzadas posteriores e apinhamentos dentários. Também, a presença da FLP pode resultar aos indivíduos problemas durante alimentação, pronúncia de alguns fonemas, audição e integração social, o que poderia afetar a qualidade de vida do indivíduo e da dinâmica familiar. Quando a saúde bucal de crianças e adolescentes com FLP foi investigada, maior retenção do biofilme microbiano nas superfícies dentárias, de inflamação gengival e maior ocorrência de cárie dentária foram observados. Para um diagnóstico e tratamento adequados, é fundamental uma abordagem multidisciplinar, individualizada, para orientação e planejamento do tratamento dos indivíduos com a malformação, desde o nascimento até a fase adulta. O conhecimento dos efeitos da FLP na saúde bucal e no bem-estar dos indivíduos e das famílias afetadas é fundamental para mudanças nas políticas públicas das práticas de saúde e redução da sobrecarga da presença da malformação congênita.   Palavras-chave: Cárie Dentária. Fenda Labial. Fissura Palatina. Saúde Bucal   Abstract Cleft lip and palate (CLP) are the most common congenital malformations of the craniofacial region and they present different phenotypes and clinical characteristics, which differ according to the anatomical structures involved: cleft lip, cleft lip and palate and isolated cleft palate. The etiology of CLP is multifactorial and includes genetic and environmental factors. The aim of this study was to investigate the role of cleft lip and palate in the prevalence of dental caries through a literature review. The anatomical defect involving the alveolar ridge and / or the palate can result in dental agenesis, supernumerary teeth, anomalies in shape and structure, as well as maxillary atresia, posterior cross bites and dental crowding. Also, the presence of CLP can result in problems for individuals during feeding, pronunciation of some phonemes, hearing and social integration, which could affect the individual's quality of life and family dynamics. When the oral health of children and adolescents with CLP was investigated, greater retention of microbial biofilm on dental surfaces, gingival inflammation and the occurrence of dental caries were observed. For an adequate diagnosis and treatment, a multidisciplinary and individualized approach is essential to guide and plan the treatment of individuals with the malformation, from birth to adulthood. The knowledge of the effects of FLP on oral health and on the well-being of affected individuals and families is fundamental to changes in public health practice policies and to reduce the burden of the presence of the congenital malformation.   Keywords:  Cleft Lip. Cleft Palate. Dental Caries. Oral Health.

scholarly journals Glycosylphosphatidylinositol Biosynthesis and Remodeling are Required for Neural Crest Cell, Cardiac and Neural Development

2019 ◽  
Author(s):  
Marshall Lukacs ◽  
Tia Roberts ◽  
Praneet Chatuverdi ◽  
Rolf W. Stottmann
Keyword(s):  
Neural Crest ◽  
Neural Development ◽  
Cleft Lip ◽  
Cleft Lip And Palate ◽  
Folate Receptor ◽  
Neural Crest Cell ◽  
Specific Expression ◽  
Hypomorphic Mutation ◽  
Pathogenic Variants ◽  
Cleft Lip Palate

AbstractThe glycosylphosphatidylinositol (GPI) anchor attaches nearly 150 proteins to the cell surface. Patients with pathogenic variants in GPI biosynthetic pathway genes display an array of phenotypes including seizures, developmental delay, dysmorphic facial features and cleft palate. There is virtually no mechanism to explain these phenotypes. we identified a novel mouse mutant (cleft lip/palate, edema and exencephaly; Clpex) with a hypomorphic mutation in Post-Glycophosphatidylinositol Attachment to Proteins-2 (Pgap2). Pgap2 is one of the final proteins in the GPI biosynthesis pathway and is required for anchor maturation. We found the Clpex mutation results in a global decrease in surface GPI expression. Surprisingly, Pgap2 showed tissue specific expression with enrichment in the affected tissues of the Clpex mutant. We found the phenotype in Clpex mutants is due to apoptosis of neural crest cells (NCCs) and the cranial neuroepithelium, as is observed in the GPI anchored Folate Receptor 1-/- mouse. We showed folinic acid supplementation in utero can rescue the cleft lip phenotype in Clpex. Finally, we generated a novel mouse model of NCC-specific total GPI deficiency in the Wnt1-Cre lineage. These mutants developed median cleft lip and palate demonstrating a cell autonomous role for GPI biosynthesis in NCC development.

Longitudinal Study of Craniofacial Growth in Subjects with Cleft Lip and Palate: From Cheiloplasty to 8 Years of Age

1995 ◽  
Vol 32 (2) ◽  
pp. 156-166 ◽  
Author(s):  
Byeong-Ju Han ◽  
Akira Suzuki ◽  
Hideo Tashiro
Keyword(s):  
Cleft Lip ◽  
Cleft Lip And Palate ◽  
Growth Increment ◽  
Craniofacial Morphology ◽  
Craniofacial Growth ◽  
Anterior Maxilla ◽  
Gonial Angle ◽  
Growth Increments ◽  
Linear Dimensions ◽  
Isolated Cleft Palate

Craniofacial morphology was compared in 10 patients with unilateral cleft lip and alveolus (UCLA), 33 with complete unilateral cleft lip and palate (UCLP), and 14 patients with isolated cleft palate (CP). Serial lateral and posteroanterior cephalograms, obtained just before lip repair at 4 months or palatoplasty at 2 years, and at 4 and 8 years of age, were analyzed through comparisons with the means and growth increments of craniofacial dimensions. Facial forms at 8 years of age were compared with those of 33 noncleft subjects. Wider upper facial width before lip repair in the UCLP patients diminished slightly following surgery, but the condition persisted up to 8 years of age. Less forward growth of the maxilla was found in the subjects who received palatoplasty and a larger vertical growth increment in anterior maxilla occurred in the UCLP patients. Posterior maxillary height showed no significant differences in its growth increment among patients with clefts, but shorter posterior maxillary height in the UCLP patients continued. Linear dimensions of the mandible did not differ among cleft subjects, but a larger intercondylar width, a larger gonial angle, and a slightly retruded mandible in the CP patients and UCLP patients suggested compensation of the mandible to a wider and retroinclined nasomaxillary complex.

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