Dental Evaluation of Kabuki Syndrome Patients

2009 ◽  
Vol 46 (6) ◽  
pp. 668-673 ◽  
Author(s):  
Camila Santos Teixeira ◽  
Claudia Renata Leite Silva ◽  
Rachel Sayuri Honjo ◽  
Débora Romeo Bertola ◽  
Lílian Maria José Albano ◽  
...  
Keyword(s):  
Cleft Lip ◽  
Primary Teeth ◽  
Genetic Disorder ◽  
Mixed Dentition ◽  
Unknown Etiology ◽  
Kabuki Syndrome ◽  
Missing Teeth ◽  
Mild Phenotype ◽  
Growth Deficiency ◽  
Cleft Lip Palate

Kabuki syndrome is a genetic disorder of unknown etiology characterized by mental retardation, growth deficiency, and peculiar face (i.e., long palpebral fissures, eversion of the lateral third of the lower eyelids, prominent ears, and broad and depressed nasal tip). Oral manifestations commonly observed in Kabuki syndrome may comprise cleft lip/palate, bifid tongue and uvula, malocclusion, and dental abnormalities. We evaluated the dental findings of eight patients with Kabuki syndrome. One presented cleft palate; three presented caries; and seven had missing teeth, with the upper lateral incisors and inferior central incisors being the most commonly absent. All missing teeth were permanent, and there was no alteration of dental chronology or morphology. Because most patients had mixed dentition, the presence or absence of primary teeth was assessed through the parents’ reports. One patient presented an absent upper canine, which had not been reported previously in the literature. Dental findings may be helpful for clinical diagnosis, or they may be an additional finding to substantiate the diagnosis of Kabuki syndrome in children with mild phenotype.

scholarly journals Association of the profile of individuals with cleft lip/palate with the beginning of orthopedic/ orthodontic treatment

RSBO ◽  
2017 ◽  
Vol 14 (2) ◽  
pp. 86-93
Author(s):  
Madiana Magalhães Moreira ◽  
Pedro Diniz Rebouças ◽  
Maria Lúcia Bonfim Chagas ◽  
Luan Cartaxo Félix ◽  
Paulo Goberlânio de Barros Silva ◽  
...  
Keyword(s):  
Orthodontic Treatment ◽  
Cleft Lip ◽  
Cleft Lip And Palate ◽  
Geographic Origin ◽  
Panoramic Radiograph ◽  
Mixed Dentition ◽  
Chi Square ◽  
Reference Hospital ◽  
Cleft Lip Palate ◽  
Chi Square Test

Cleft lip and palate (CLP) is the most frequent congenital malformation among the anomalies of the head and neck. The orthopedic/orthodontic treatment is included in the rehabilitation of these individuals, however there is no consensus in the literature regarding the ideal time for its beginning. Objective: To verify and characterize the profile of individuals with CLP treated at a reference hospital of the northeast of Brazil from 1998 to 2013 and its association with the beginning of the orthopedic/ orthodontic treatment. Material and methods: Through direct observation of medical records, panoramic radiograph, and study casts of 323 individuals, data regarding sex, cleft type, origin and age of beginning of the orthopedic/orthodontic treatment were surveyed and analyzed using the chi-square test, considering a 5% level of significance. Results: Most of the individuals had transforamen and the unilateral cleft was the most prevalent (p<0.05). Females were statistically more affected by post-foramen cleft and males by trans-foramen cleft (p><0.05). Most individuals with trans-foramen cleft and post-foramen cleft started the orthopedic/ orthodontic treatment between 8 and 12 years old (p><0.05). No statistically significant differences occurred relating the beginning><0.05). Females were statistically more affected by post-foramen cleft and males by trans-foramen cleft (p<0.05). Most individuals with trans-foramen cleft and post-foramen cleft started the orthopedic/ orthodontic treatment between 8 and 12 years old (p<0.05). No statistically significant differences occurred relating the beginning> <0.05). No statistically significant differences occurred relating the beginning of the orthopedic/orthodontic treatment with geographic origin and sex of, although most of them have started treatment at late mixed dentition. Conclusion: Regardless of gender, origin, or cleft type, most patients started orthopedic treatment up to 12 years-old, an age considered ideal by most protocols. Unilateral and trans-foramen cleft were the most prevalent cleft types. post-foramen cleft affected more females, while trans-foramen cleft affected more males.

scholarly journals Further Expansion of the Mutational Spectrum of 3MC Syndrome: A Novel MASP1 Pathogenic Variant in a Male Patient

2021 ◽  
pp. 1-7
Author(s):  
Nihat Bugra Agaoglu ◽  
Ozlem Akgun Dogan
Keyword(s):  
Male Patient ◽  
Cleft Lip ◽  
Postnatal Growth ◽  
Pathogenic Variant ◽  
Facial Dysmorphism ◽  
Compound Heterozygous ◽  
Aortic Dilatation ◽  
Pathogenic Variants ◽  
Growth Deficiency ◽  
Cleft Lip Palate

The 3MC syndrome is a rare autosomal recessive syndrome characterized by facial dysmorphism, multiple congenital abnormalities, and postnatal growth deficiency. Hypertelorism, blepharophimosis, blepharoptosis, high-arched eyebrows, and cleft lip/palate compose the facial gestalt, which is the key component for diagnosing the syndrome. Biallelic pathogenic variants in <i>MASP1, COLEC11</i>, and <i>COLEC10</i> are responsible for 3MC syndrome in which both genotypic and phenotypic heterogeneity is described. To date, 16 homozygous/compound heterozygous pathogenic variations in 27 patients from 22 families have been reported in the <i>MASP1</i> gene associated with 3MC syndrome. Here, we report a male patient with a novel homozygous pathogenic variant in <i>MASP1</i> in whom macrocephaly, pyloric stenosis, and prenatal findings including polyhydramnios, aortic dilatation, and intracranial cysts beside the distinctive facial features were detected. Reporting detailed clinical and molecular findings in patients is pivotal in terms of enabling the phenotypic and genotypic spectrum of this rare syndrome to be delineated.

Maxillary Distraction: Aesthetic and Functional Benefits in Cleft Lip-Palate and Prognathic Patients during Mixed Dentition

1998 ◽  
Vol 101 (4) ◽  
pp. 951-963 ◽  
Author(s):  
Fernando Molina ◽  
Fernando Ortiz Monasterio ◽  
María de la Paz Aguilar ◽  
Juan Barrera
Keyword(s):  
Cleft Lip ◽  
Mixed Dentition ◽  
Cleft Lip Palate ◽  
Maxillary Distraction

Alveolar Cleft Reconstruction Using Double Iliac Corticocancellous Bone Plates Grafting Technique in Mixed Dentition Phase

2021 ◽  
pp. 105566562110421
Author(s):  
Mohammed Omara ◽  
Mamdouh Ahmed ◽  
Mohamed Shawky ◽  
Sherif Ali
Keyword(s):  
Bone Density ◽  
Cleft Lip ◽  
Cleft Lip And Palate ◽  
Contralateral Side ◽  
Bone Plates ◽  
Mixed Dentition ◽  
Alveolar Cleft ◽  
Oronasal Fistula ◽  
Grafting Technique ◽  
Cleft Lip Palate

Objective The primary goal of maxillary alveolar cleft reconstruction in patients with cleft lip/palate at the phase of mixed dentition is to build bone in the cleft area which in turn allows closure of the oronasal fistula, establishes arch continuity, and improve maxillary stability. This study aimed to evaluate the double iliac corticocancellous bone plates grafting technique for initial alveolar cleft grafting. Design This prospective study was conducted on 12 consecutive patients with unilateral complete alveolar cleft and previous cleft lip and palate corrective surgery. Intervention For all patients, the iliac crest graft was harvested and cut into 2 cortical bone plates and adapted labially and palatally. Both plates were fixed with screws then the gap between the 2 plates was filled with cancellous bone. The grafted side was compared to the contralateral side 9 months postoperatively regarding labio-palatal alveolar width and bone density, while the 9 months postoperative graft height was compared to the immediate postoperative height using computed tomography scans. Results All grafted sides showed similarity to the contralateral sides regarding both alveolar width and bone density with minimal crestal bone resorption. Conclusion The double iliac corticocancellous bone plate grafting technique seems to be a reliable method for alveolar cleft reconstruction with adequate bone quality and contour.

scholarly journals Association of the profile of individuals with cleft lip/palate with the beginning of orthopedic/ orthodontic treatment

RSBO ◽  
2017 ◽  
Vol 1 (2) ◽  
pp. 86 ◽  
Author(s):  
Madiana Magalhães Moreira ◽  
Pedro Diniz Rebouças ◽  
Maria Lúcia Bonfim Chagas ◽  
Luan Cartaxo Félix ◽  
Mário Rogério Mota
Keyword(s):  
Orthodontic Treatment ◽  
Cleft Lip ◽  
Cleft Lip And Palate ◽  
Geographic Origin ◽  
Panoramic Radiograph ◽  
Mixed Dentition ◽  
Chi Square ◽  
Reference Hospital ◽  
Cleft Lip Palate ◽  
Chi Square Test

Cleft lip and palate (CLP) is the most frequent congenital malformation among the anomalies of the head and neck. The orthopedic/orthodontic treatment is included in the rehabilitation of these individuals, however there is no consensus in the literature regarding the ideal time for its beginning. Objective: To verify and characterize the profile of individuals with CLP treated at a reference hospital of the northeast of Brazil from 1998 to 2013 and its association with the beginning of the orthopedic/ orthodontic treatment. Material and methods: Through direct observation of medical records, panoramic radiograph, and studycasts of 323 individuals, data regarding sex, cleft type, origin and age of beginning of the orthopedic/orthodontic treatment were surveyed and analyzed using the chi-square test, considering a 5% level of significance. Results: Most of the individuals had transforamen and the unilateral cleft was the most prevalent (p<0.05). Females were statistically more affected by post-foramen cleftand males by trans-foramen cleft (p<0.05). Most individuals with trans-foramen cleft and post-foramen cleft started the orthopedic/ orthodontic treatment between 8 and 12 years old (p<0.05). No statistically significant differences occurred relating the beginning of the orthopedic/orthodontic treatment with geographic origin and sex of, although most of them have started treatment at late mixed dentition. Conclusion: Regardless of gender, origin, or cleft type, most patients started orthopedic treatment up to 12 years-old, an age considered ideal by most protocols. Unilateral and trans-foramen cleft were the most prevalent cleft types. post-foramen cleft affected more females, while trans-foramen cleft affected more males.

scholarly journals Association of Polymorphisms of MASP1/3, COLEC10, and COLEC11 Genes with 3MC Syndrome

2020 ◽  
Vol 21 (15) ◽  
pp. 5483 ◽  
Author(s):  
Gabriela Gajek ◽  
Anna S. Świerzko ◽  
Maciej Cedzyński
Keyword(s):  
Autosomal Recessive ◽  
Essential Role ◽  
Cleft Lip ◽  
Genetic Disorder ◽  
Gene Mutations ◽  
Craniofacial Abnormalities ◽  
Radioulnar Synostosis ◽  
Mannose Binding ◽  
Cleft Lip Palate ◽  
Binding Lectin

The Malpuech, Michels, Mingarelli, Carnevale (3MC) syndrome is a rare, autosomal recessive genetic- disorder associated with mutations in the MASP1/3, COLEC1,1 or COLEC10 genes. The number of 3MC patients with known mutations in these three genes reported so far remains very small. To date, 16 mutations in MASP-1/3, 12 mutations in COLEC11 and three in COLEC10 associated with 3MC syndrome have been identified. Their products play an essential role as factors involved in the activation of complement via the lectin or alternative (MASP-3) pathways. Recent data indicate that mannose-binding lectin-associated serine protease-1 (MASP-1), MASP-3, collectin kidney-1 (collectin-11) (CL-K1), and collectin liver-1 (collectin-10) (CL-L1) also participate in the correct migration of neural crest cells (NCC) during embryogenesis. This is supported by relationships between MASP1/3, COLEC10, and COLEC11 gene mutations and the incidence of 3MC syndrome, associated with craniofacial abnormalities such as radioulnar synostosis high-arched eyebrows, cleft lip/palate, hearing loss, and ptosis.

Resorption of multirooted temporary teeth in children with dentofacial anomalies in accordance with the orthopantomography data

2020 ◽  
Vol 20 (3) ◽  
pp. 235-241
Author(s):  
F. S. Ayupova ◽  
S. N. Alekseenko ◽  
V. Ya. Zobenko ◽  
T. V. Gayvoronskaya
Keyword(s):  
Primary Teeth ◽  
Root Resorption ◽  
Type A ◽  
Mixed Dentition ◽  
Permanent Teeth ◽  
Primary Molars ◽  
Second Primary ◽  
X Rays ◽  
Primary Molar ◽  
Posterior Teeth

Relevance. To study the incidence of different types of resorption of multirooted primary teeth, to specify indications for deciduous molar extraction to prevent eruption abnormalities of permanent posterior teeth in mixed dentition.Materials and methods. Root resorption of 375 multirooted primary teeth (166 first primary molars and 209 second primary molars) was studied on panoramic X-rays of 60 children (30 girls and 30 boys) aged between 7 and 15. Illustrated classification by T.F. Vinogradova (1967) improved by authors was used to determine type and degree of root resorption of multi-rooted primary teeth. Received data were described with absolute values of number of cases and percentage. Chi-square was used to detect differences in sign incidence rate between groups, p<0.05 was considered statistically significant.Results. There were no statistically significant gender differences (p>0,05) in type and degree of root resorption of multirooted primary teeth. Type A resorption prevailed and constituted 53.3% of all primary molars. Disturbances in root resorption of multirooted primary teeth in mixed dentition were related to health condition of primary teeth. Transition of even resorption to unven was considered a risk factor of delayed eruption and aberrant position of permanent teeth, and indication for extraction of a primary molar in question. Conclusions. 1) Even root resorption (type A) was detected in 53.3% of primary molars in mixed dentition by orthopantomography. 2) Transition from even resorption of primary molar roots to uneven resorption was associated with eruption deviations and delayed premolar eruption. 3) Timely extraction of primary molars with uneven root resorption facilitated correct eruption of premolars and increased effectiveness of secondary prevention of malocclusion in children.

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