scholarly journals Rubinstein-Taybi Syndrome: A Case Report

2012 ◽  
Vol 2012 ◽  
pp. 1-4 ◽  
Author(s):  
A. P. Münevveroglu ◽  
B. B. Akgöl
Keyword(s):  
Case Report ◽  
Dental Treatment ◽  
Treatment Plan ◽  
Genetic Disorder ◽  
Mental Deficiency ◽  
Mentally Retarded ◽  
Facial Dysmorphism ◽  
Nasal Bridge ◽  
Dental Management ◽  
Broad Nasal Bridge

Rubinstein-Taybi syndrome or Broad Thumb-Hallux syndrome is a genetic disorder characterized by facial dysmorphism, growth retardation, and mental deficiency. A seven-year-old girl had come to the Department of Pedodontics, Istanbul Medipol University, Faculty of Dentistry, Turkey, with a complaint of caries and bleeding of gingivae. The patient was mentally retarded. Extraoral features revealed distinctive facial appearance with a broad fore head, hypertelorism, broad nasal bridge, and beaked nose. Intraoral features observed were talons cusps in the upper lateral incisors, carious teeth, and plaque accumulation. Since the patient was mentally retarded, the dental treatment was done under GA. The treatment plan and dental management of this patient are discussed in this case report.

scholarly journals Pitt–Hopkins syndrome with electrical stat us epileptic us in slo w-wave sleep: a case report

2019 ◽  
Vol 14 (2) ◽  
pp. 42-48
Author(s):  
N. G. Lyukshina
Keyword(s):  
Case Report ◽  
Intellectual Disability ◽  
Status Epilepticus ◽  
Neuronal Differentiation ◽  
Clinical Case ◽  
Genetic Disorder ◽  
Facial Dysmorphism ◽  
Autistic Behavior ◽  
Rare Genetic Disorder ◽  
Molecular Variant

Pitt–Hoppkins syndrome is rare genetic disorder caused by a molecular variant of TCF4 which is involved in embryologic neuronal differentiation. The syndrome is characterized by specific facial dysmorphism, phychomotor delay, autistic behavior and intellectual disability. Other associated features include ealy-onset myopia, seizures, constipation and hyperventilation-apneic spells. We introduced a clinical case of the patient with molecularly confirmed TCF4 variant and previously undescribed combination with syndrome of the electrical status epilepticus during sleep.

scholarly journals Dental Management of a Patient with Congenital Hypothyroidism: A Case Report

2016 ◽  
Vol 04 (02) ◽  
pp. 122-125
Author(s):  
Monisha Singhal ◽  
Nitin Singh ◽  
Anand Rohit ◽  
C. Chaudhary
Keyword(s):  
Case Report ◽  
Congenital Hypothyroidism ◽  
Dental Treatment ◽  
Neural System ◽  
Present Case Report ◽  
Pediatric Dentist ◽  
Dental Management ◽  
Child Patient ◽  
Oral Conditions

AbstractCongenital hypothyroidism (CHT) is one of the most common thyroid disorders. It occurs because of dysgenesis of thyroid gland which is responsible for the normal development of neural system. Child patient suffering from congenital hypothyroidism shows various medical and behavioral symptoms which makes routine dental care very challenging to the pediatric dentist. Due to increased awareness and introduction of neonatal screening, the long term hypothyroidism has become rare. The most significant oral conditions related to these patients are delayed eruption and dental caries. The present case report outlines the dental treatment of a 9yr old girl with congenital hypothyroidism.

scholarly journals Sanjad-Sakati Syndrome Dental Management: A Case Report

2013 ◽  
Vol 2013 ◽  
pp. 1-4 ◽  
Author(s):  
Hisham Y. El Batawi
Keyword(s):  
Health Education ◽  
General Anesthesia ◽  
Dietary Habits ◽  
Dental Treatment ◽  
Dental Health ◽  
Genetic Disorder ◽  
Growth Failure ◽  
Dental Tissues ◽  
Dental Management ◽  
Nutritional Needs

Sanjad-Sakati syndrome (SSS) is a rare genetic disorder with autosomal recessive pattern of inheritance characterized by hypoparathyroidism, sever growth failure, mental retardation, susceptibility to chest infection, and dentofacial anomalies. A child with SSS was referred to the dental departmentseeking dental help for sever dental caries which was attributed to his dietary habits and quality of dental tissues. Full restorative rehabilitation was done under general anesthesia. Two years later, the child presented with recurrent caries affecting uncrowned teeth. High carries recurrence rate was blamed for the nutritional habits endorsed by the parents. Only steel crowned teeth survived such hostile oral environment which suggested shifting of treatment strategy towards full coverage restorations instead of classical cavity preparations and fillings during a second attempt for dental treatment under general anesthesia and for the dental treatment of two cousins of the same child. The author recommends effective health education for parents including the nature of their child’s genetic disorder, nutritional needs, and dental health education to improve the life style of such children.

scholarly journals Exploring Factors Influencing Complete Denture Management of Patient with Myasthenia Gravis

2020 ◽  
Vol 24 (2) ◽  
pp. 113-117
Author(s):  
Savvas Kamalakidis ◽  
Georgios Papaemmanouil ◽  
Vassiliki Anastassiadou
Keyword(s):  
Case Report ◽  
Myasthenia Gravis ◽  
Dental Treatment ◽  
Neuromuscular Disorder ◽  
Complete Denture ◽  
Treatment Protocols ◽  
Dental Management ◽  
Oral Symptoms ◽  
Natural Dentition ◽  
Neuromuscular Coordination

SummaryBackground/Aim: The purpose of this literature review and case report was to highlight the oral symptoms and the pathophysiology of Myasthenia Gravis (MG). MG is an autoimmune, antibody-mediated neuromuscular disorder. It is characterized by fluctuating fatigability and weakness affecting ocular, bulbar and (proximal) limb skeletal muscles.Case report: The case of an edentulous 72-year-old female patient with MG, and in need of removable prostheses was reported. The dental management of a complete denture wearer with MG required special attention and treatment protocols, as described in the present case report.Conclusions: Dental treatment, especially complete denture rehabilitation, of patients diagnosed with MG presents a challenge to the oral health care provider. Clinicians must be aware of the patients’ health status in order to preserve their natural dentition. Implant-supported overdentures must be the treatment of choice in cases of edentulism coupled with MG. In cases where a complete denture is the treatment option, the prosthesis should be placed in the zone of minimum conflict (neutral zone) for optimal neuromuscular coordination.

scholarly journals Dental management of patients treated with intravenous bisphosphonates. A case report

2017 ◽  
Vol 25 (3) ◽  
pp. 248
Author(s):  
Keico Graciela Sano Trauth ◽  
Marilena Chinali Komesu ◽  
Claudia Helena Lovato Silva ◽  
Valéria Oliveira Pagnano ◽  
Leandro Dorigan De Macedo ◽  
...  
Keyword(s):  
Dental Treatment ◽  
Treatment Plan ◽  
Osteonecrosis Of The Jaw ◽  
Periodontal Therapy ◽  
Dental School ◽  
Invasive Procedures ◽  
Osteonecrosis Of The Jaws ◽  
Dental Management ◽  
Supportive Periodontal Therapy ◽  
Intravenous Bisphosphonates

Bisphosphonates are drugs used for the inhibition of osteoclastic bone resorption. Their therapeutic use is indicated for Paget’s disease, hypercalcemia of cancer, bone metastases, and osteoporosis. The main side effect of these drugs is osteonecrosis of the jaw, which is difficult to control. The aim of the present study was to report a patient, who was referred to the Special Needs Clinics of the Ribeirão Preto Dental School, University of São Paulo, for dental treatment. His medical history revealed a diagnosis of multiple myeloma with bone marrow transplantation in November 2007. Since then, he has been using zometa every 3 months. After physical examination and complementary exams, a diagnosis of angular cheilitis, erythematous candidiasis, caries, localized chronic periodontitis, pulp necrosis and partial edentulousness was established. The treatment plan was based on control of angular cheilitis candidiasis, basic periodontal therapy, supportive periodontal therapy, endodontic treatment, and partial mandibular and maxillary dentures. All invasive procedures were performed with antibiotic prophylaxis. The patient is under treatment and care is being taken to avoid osteonecrosis of the jaws. The authors highlight the need for knowledge of the side effects of bisphosphonates to prevent such effects and to maintain the oral health of the patients.

scholarly journals Partial deletion of the long arm of chromosome 7: a case report

Open Medicine ◽  
2018 ◽  
Vol 13 (1) ◽  
pp. 433-435 ◽  
Author(s):  
Chun Zhu ◽  
Mei-Ling Tong ◽  
Xia Chi
Keyword(s):  
Mental Retardation ◽  
Case Report ◽  
Bone Age ◽  
Chromosome 7 ◽  
Facial Features ◽  
Mild Mental Retardation ◽  
Partial Deletion ◽  
Nasal Bridge ◽  
Case Presentations ◽  
Broad Nasal Bridge

AbstractStudy advances with a childhood case of partial deletion of the long arm of chromosome 7. The patient is a 36-month-old girl with growth retardation, mild mental retardation and delayed bone age. She showed no signs of hypotelorism, upslanting palpebral fissures, epicanthal folds, low-set ears, or flat and broad nasal bridge. Microarray testing using the Affymetrix CytoScan HD array revealed an approximately 58 kb deletion at 7q31.1 in the girl and her father, suggesting paternal origin. As the patient had no characteristic facial features, 7q deletions had not been considered. This case broadens the range of case presentations for microdeletions of chromosome 7.

scholarly journals Dexmedetomidine Infusion for Routine Dental Management of an ASA IV Patient: A Case Report

2017 ◽  
Vol 64 (2) ◽  
pp. 88-96 ◽  
Author(s):  
Andrew S. Young ◽  
Nicholas A. Russell ◽  
Joseph A. Giovannitti
Keyword(s):  
Case Report ◽  
Dental Treatment ◽  
Anesthetic Management ◽  
Functional Decline ◽  
Intravenous Sedation ◽  
Clinical Effects ◽  
Dental Management ◽  
Patients Experience ◽  
Dexmedetomidine Infusion ◽  
Caucasian Female

Anesthetic management of elderly patients requires numerous physiological considerations. With aging, degenerative changes occur in the structure and functional capacity of tissues and organs. Typically, these patients experience clinical effects with lower doses of medication. Important considerations for the geriatric populations following anesthesia include increased time to recovery and avoidance of functional decline. A case is reported in which an 83-year-old Caucasian female with a complex medical history presented for routine dental treatment under intravenous sedation via dexmedetomidine infusion.

Dental management of severe dentinogenesis imperfecta in a mild form of osteogenesis imperfecta

2003 ◽  
Vol 26 (2) ◽  
pp. 131-136 ◽  
Author(s):  
L. Stephen ◽  
P. Beighton
Keyword(s):  
Osteogenesis Imperfecta ◽  
Dental Treatment ◽  
Treatment Plan ◽  
Cost Effective ◽  
Western Cape ◽  
Clinical Expertise ◽  
Dentinogenesis Imperfecta ◽  
Dental Management ◽  
Affected Woman ◽  
The University

Dentinogenesis Imperfecta (DI), in which the teeth are discolored, translucent and brittle, can occur in isolation as a familial trait and as a component of the skeletal dysplasia Osteogenesis Imperfecta (OI). In a Cape Town family, 20 persons in 3 generations had mild OI, with the additional manifestation of severe DI. The family was assessed at the Dental Genetic Unit of the University of the Western Cape and appropriate dental treatment was provided. In this setting, a detailed treatment plan was devised for a severely affected woman. This plan proved to be efficient and cost effective, and the final outcome was pleasing to the patient. Dentinogenesis Imperfecta is not uncommon and may well be encountered in conventional dental practice. The necessary clinical expertise is within the scope of the skills of the general dentist.

scholarly journals Dental management of a child with a rare bone disorder: a case report with a six-year follow up

2020 ◽  
Vol 68 ◽  
Author(s):  
Suélen Alves TEIXEIRA ◽  
Mariana Oliveira GUIMARÃES ◽  
Natália Mendes De Matos CARDOSO ◽  
Raiane Machado MAIA ◽  
Natália Cristina Ruy CARNEIRO ◽  
...  
Keyword(s):  
Case Report ◽  
Osteogenesis Imperfecta ◽  
Outpatient Clinic ◽  
Type I Collagen ◽  
Dental Treatment ◽  
Genetic Disorder ◽  
Permanent Teeth ◽  
Type I ◽  
Osteogenesis Imperfecta Type ◽  
Dental Esthetics

ABSTRACT Osteogenesis imperfecta is a rare genetic disorder involving abnormal type I collagen composition that compromises bone and collagen-rich tissues. Individuals with Osteogenesis imperfecta exhibit oral and systemic abnormalities, including dentinogenesis imperfect. The purpose of the review is to report a clinical case of a nine-year-old boy diagnosed with Osteogenesis Imperfecta type III, focusing on dental and occlusal aspects. The case report was developed at the outpatient clinic at the School of Dentistry of the Federal University of Minas Gerais, in Southeastern of Brazil. The clinical oral examination revealed Angle Class III malocclusion and anterior crossbite. It was also observed the presence of dentinogenesis imperfect in both primary and permanent teeth. Radiographic analysis showed the presence of completed obliterated pulp chambers in both dentitions. Dental treatment included oral hygiene counseling, dental extraction, fluoride therapy and restorations. The child was followed up for a period of six years and then referred to the orthodontic outpatient clinic at the same university for the treatment of malocclusion. Early dental care is important to the prevention or interception of oral diseases, such as dentinogenesis imperfect and malocclusion, as well as the improvement of dental esthetics in cases of Osteogenesis Imperfecta.

scholarly journals Identification of a novel KAT6A variant in an infant presenting with facial dysmorphism and developmental delay: a case report and literature review

2021 ◽  
Vol 14 (1) ◽  
Author(s):  
Soyoung Bae ◽  
Aram Yang ◽  
Jinsup Kim ◽  
Hyun Ju Lee ◽  
Hyun Kyung Park
Keyword(s):  
Developmental Delay ◽  
Congenital Abnormalities ◽  
Genetic Disorder ◽  
Facial Dysmorphism ◽  
Nasal Bridge ◽  
Case Presentation ◽  
Whole Exome ◽  
Gastrointestinal Problems ◽  
Expressive Language Delay ◽  
Serial Assessments

Abstract Background Arboleda-Tham syndrome (ARTHS), caused by a pathogenic variant of KAT6A, is an autosomal dominant inherited genetic disorder characterized by various degrees of developmental delay, dysmorphic facial appearance, cardiac anomalies, and gastrointestinal problems. Case presentation A baby presented multiple facial deformities including a high arched and cleft palate, with philtral ridge and vermilion indentation, a prominent nasal bridge, a thin upper lip, low-set ears, an epicanthal fold, and cardiac malformations. Whole exome sequencing (WES) revealed a heterozygous nonsense mutation in exon 8 of the KAT6A gene (c.1312C>T, p.[Arg438*]) at 2 months of age. After a diagnosis of ARTHS, an expressive language delay was observed during serial assessments of developmental milestones. Conclusions In this study, we describe a case with a novel KAT6A variant first identified in Korea. This case broadens the scope of clinical features of ARTHS and emphasizes that WES is necessary for early diagnosis in patients with dysmorphic facial appearances, developmental delay, and other congenital abnormalities.

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