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Hua Xi Kou Qiang Yi Xue Za Zhi = Huaxi... May 2022Cleidocranial dysplasia is a rare autosomal dominant hereditary disease that mainly affects the skeletal and dental development and has an incidence rate of about 1∶1...
Cleidocranial dysplasia is a rare autosomal dominant hereditary disease that mainly affects the skeletal and dental development and has an incidence rate of about 1∶1 000 000. In this study, a case of cranio-clavicular dysplasia was reported, and related literature was reviewed. RUNX2 6p21.1 NM_001024630.3 Exon4 c.534dupAp.(Val179fs) was identified to be a new frameshift mutation by gene analysis.
PubMed: 38597020
DOI: 10.7518/hxkq.2022.03.018 -
Current Osteoporosis Reports Dec 2017Several bone disorders affecting the skeleton often are manifest in the maxillofacial region. This review presents the most common bone disorders in children and their... (Review)
Review
PURPOSE OF REVIEW
Several bone disorders affecting the skeleton often are manifest in the maxillofacial region. This review presents the most common bone disorders in children and their dental-oral manifestations: fibrous dysplasia, Paget's disease, osteogenesis imperfecta, renal osteodystrophy, hypophosphatasia, and osteoporosis. The specific intraoral characteristics will reviewed in detail.
RECENT FINDINGS
Recent studies confirmed the close relationship between the mandible and the maxilla with the most prevalent systemic bone disorders in children. This review will help practitioners to integrate the oral health into the systemic health and improve the multidisciplinary approach of pediatric patients between medicine and dentistry.
Topics: Adolescent; Bone Diseases; Child; Child, Preschool; Chronic Kidney Disease-Mineral and Bone Disorder; Fibrous Dysplasia of Bone; Humans; Hypophosphatasia; Infant; Malocclusion; Oral Health; Osteitis Deformans; Osteogenesis Imperfecta; Osteoporosis; Tooth Diseases
PubMed: 28965204
DOI: 10.1007/s11914-017-0409-5 -
Orphanet Journal of Rare Diseases May 2008McCune-Albright syndrome (MAS) is classically defined by the clinical triad of fibrous dysplasia of bone (FD), café-au-lait skin spots, and precocious puberty (PP). It...
McCune-Albright syndrome (MAS) is classically defined by the clinical triad of fibrous dysplasia of bone (FD), café-au-lait skin spots, and precocious puberty (PP). It is a rare disease with estimated prevalence between 1/100,000 and 1/1,000,000. FD can involve a single or multiple skeletal sites and presents with a limp and/or pain, and, occasionally, a pathologic fracture. Scoliosis is common and may be progressive. In addition to PP (vaginal bleeding or spotting and development of breast tissue in girls, testicular and penile enlargement and precocious sexual behavior in boys), other hyperfunctioning endocrinopathies may be involved including hyperthyroidism, growth hormone excess, Cushing syndrome, and renal phosphate wasting. Café-au-lait spots usually appear in the neonatal period, but it is most often PP or FD that brings the child to medical attention. Renal involvement is seen in approximately 50% of the patients with MAS. The disease results from somatic mutations of the GNAS gene, specifically mutations in the cAMP regulating protein, Gs alpha. The extent of the disease is determined by the proliferation, migration and survival of the cell in which the mutation spontaneously occurs during embryonic development. Diagnosis of MAS is usually established on clinical grounds. Plain radiographs are often sufficient to make the diagnosis of FD and biopsy of FD lesions can confirm the diagnosis. The evaluation of patients with MAS should be guided by knowledge of the spectrum of tissues that may be involved, with specific testing for each. Genetic testing is possible, but is not routinely available. Genetic counseling, however, should be offered. Differential diagnoses include neurofibromatosis, osteofibrous dysplasia, non-ossifying fibromas, idiopathic central precocious puberty, and ovarian neoplasm. Treatment is dictated by the tissues affected, and the extent to which they are affected. Generally, some form of surgical intervention is recommended. Bisphosphonates are frequently used in the treatment of FD. Strengthening exercises are recommended to help maintaining the musculature around the FD bone and minimize the risk for fracture. Treatment of all endocrinopathies is required. Malignancies associated with MAS are distinctly rare occurrences. Malignant transformation of FD lesions occurs in probably less than 1% of the cases of MAS.
Topics: Adolescent; Adult; Cafe-au-Lait Spots; Child; Child, Preschool; Endocrine System Diseases; Female; Fibrous Dysplasia, Polyostotic; Genetic Counseling; Gigantism; Humans; Hyperthyroidism; Male; Puberty, Precocious
PubMed: 18489744
DOI: 10.1186/1750-1172-3-12 -
Journal of Oral and Maxillofacial... May 2011The concept of 'fibro-osseous lesions' of bone has evolved over the last several decades and now includes two major entities, viz., fibrous dysplasia and ossifying...
The concept of 'fibro-osseous lesions' of bone has evolved over the last several decades and now includes two major entities, viz., fibrous dysplasia and ossifying fibroma, as well as other less common entities such as periapical dysplasia, focal osseous dysplasia, florid osseous dysplasia and familial gigantiform cementoma. Florid osseous dysplasia is a central lesion of the bone and periodontium, which has caused considerable controversy because of confusion regarding terminology and criteria for diagnosis. This paper reports a rare case of florid osseous dysplasia affecting maxilla and mandible bilaterally in a 14-year-old Indian male patient.
PubMed: 22529580
DOI: 10.4103/0973-029X.84497 -
Current Osteoporosis Reports Oct 2016Fibrous dysplasia (FD) is an uncommon and debilitating skeletal disorder resulting in fractures, deformity, functional impairment, and pain. It arises from post-zygotic... (Review)
Review
Fibrous dysplasia (FD) is an uncommon and debilitating skeletal disorder resulting in fractures, deformity, functional impairment, and pain. It arises from post-zygotic somatic activating mutations in GNAS, in the cAMP-regulating transcript α-subunit, Gsα. Constitutive Gs signaling results in activation of adenylyl cyclase and dysregulated cAMP production. In the skeleton, this leads to the development of FD lesions with abnormal bone matrix, trabeculae, and collagen, produced by undifferentiated mesenchymal cells. FD may occur in isolation or in combination with extraskeletal manifestations, including hyperfunctioning endocrinopathies and café-au-lait macules, termed McCune-Albright syndrome (MAS). This review summarizes current clinical and translational perspectives in FD/MAS, with an emphasis on FD pathogenesis, natural history, pre-clinical and clinical investigation, and future directions.
Topics: Animals; Bone Density Conservation Agents; Bone and Bones; Chromogranins; Disease Models, Animal; Fibroblast Growth Factor-23; Fibrous Dysplasia of Bone; Fibrous Dysplasia, Polyostotic; GTP-Binding Protein alpha Subunits, Gs; Humans; Pain Management; Translational Research, Biomedical
PubMed: 27492469
DOI: 10.1007/s11914-016-0317-0 -
BMJ Case Reports Jul 2013Ellis-van Creveld (EvC) syndrome or chondroectodermal dysplasia is an autosomal recessive disorder with characteristic clinical manifestations. The four principal...
Ellis-van Creveld (EvC) syndrome or chondroectodermal dysplasia is an autosomal recessive disorder with characteristic clinical manifestations. The four principal characteristics are chondrodysplasia, polydactyly, ectodermal dysplasia and congenital heart defects. Its incidence in the general population is low. The oral manifestations of EvC syndrome include both soft tissues and teeth, but the dental literature on the subject is scarce. The present case describes the constant and variable oral findings in these patients, which can be diagnosed at any age, even during pregnancy. The presence of a variety of oral manifestations, such as fusion of upper lip to the gingival margin, presence of multiple frenula, abnormally shaped and microdontic teeth and congenitally missing teeth requires multidisciplinary dental treatment, with consideration for the high incidence of cardiac defects in these patients.
Topics: Adolescent; Ellis-Van Creveld Syndrome; Female; Humans; Phenotype
PubMed: 23843404
DOI: 10.1136/bcr-2013-009463 -
American Journal of Medical Genetics.... Nov 2013Dental anomalies are common congenital malformations that can occur either as isolated findings or as part of a syndrome. This review focuses on genetic causes of... (Review)
Review
Dental anomalies are common congenital malformations that can occur either as isolated findings or as part of a syndrome. This review focuses on genetic causes of abnormal tooth development and the implications of these abnormalities for clinical care. As an introduction, we describe general insights into the genetics of tooth development obtained from mouse and zebrafish models. This is followed by a discussion of isolated as well as syndromic tooth agenesis, including Van der Woude syndrome (VWS), ectodermal dysplasias (EDs), oral-facial-digital (OFD) syndrome type I, Rieger syndrome, holoprosencephaly, and tooth anomalies associated with cleft lip and palate. Next, we review delayed formation and eruption of teeth, as well as abnormalities in tooth size, shape, and form. Finally, isolated and syndromic causes of supernumerary teeth are considered, including cleidocranial dysplasia and Gardner syndrome.
Topics: Abnormalities, Multiple; Animals; Anterior Eye Segment; Cleft Lip; Cleft Palate; Cysts; Dentition; Developmental Disabilities; Ectodermal Dysplasia; Eye Abnormalities; Eye Diseases, Hereditary; Holoprosencephaly; Humans; Lip; Mice; Orofaciodigital Syndromes; Tooth
PubMed: 24124058
DOI: 10.1002/ajmg.c.31382 -
Swiss Dental Journal 2015Ectodermal dysplasias (EDs) form a large clinically and genetically heterogeneous group of manifestations characterized by dystrophy or agenesis of embryologic...
Ectodermal dysplasias (EDs) form a large clinically and genetically heterogeneous group of manifestations characterized by dystrophy or agenesis of embryologic ectodermal derivatives. Therefore skin, nails, hair, teeth and secretory organs are mainly affected. Hypohidrotic ectodermal dysplasia (HED) is the most common ED syndrom. It is characterized by atrichosis or hypotrichosis, anodontia or hypodontia and hypohidrosis. Missing teeth or retarded eruption of teeth often leads to the diagnosis of ED, which emphasizes the significance of an appropriate dental examination. Tooth agenesis and its effects on craniofacial structures are often the most signicificant clinical and therapeutical problem. It is a challenge to manage the functional, esthetic and psychosocial needs of these patients and therefore requires the involvement of different specialists, such as pediatrists, pedodontists, oral surgeons and prosthodontists.
PubMed: 26631270
DOI: No ID Found -
Frontiers in Physiology 2015The most common root malformations in humans arise from either developmental disorders of the root alone or disorders of radicular development as part of a general tooth... (Review)
Review
The most common root malformations in humans arise from either developmental disorders of the root alone or disorders of radicular development as part of a general tooth dysplasia. The aim of this review is to relate the characteristics of these root malformations to potentially disrupted processes involved in radicular morphogenesis. Radicular morphogenesis proceeds under the control of Hertwig's epithelial root sheath (HERS) which determines the number, length, and shape of the root, induces the formation of radicular dentin, and participates in the development of root cementum. Formation of HERS at the transition from crown to root development appears to be very insensitive to adverse effects, with the result that rootless teeth are extremely rare. In contrast, shortened roots as a consequence of impaired or prematurely halted apical growth of HERS constitute the most prevalent radicular dysplasia which occurs due to trauma and unknown reasons as well as in association with dentin disorders. While odontoblast differentiation inevitably stops when growth of HERS is arrested, it seems to be unaffected even in cases of severe dentin dysplasias such as regional odontodysplasia and dentin dysplasia type I. As a result radicular dentin formation is at least initiated and progresses for a limited time. The only condition affecting cementogenesis is hypophosphatasia which disrupts the formation of acellular cementum through an inhibition of mineralization. A process particularly susceptible to adverse effects appears to be the formation of the furcation in multirooted teeth. Impairment or disruption of this process entails taurodontism, single-rooted posterior teeth, and misshapen furcations. Thus, even though many characteristics of human root malformations can be related to disorders of specific processes involved in radicular morphogenesis, precise inferences as to the pathogenesis of these dysplasias are hampered by the still limited knowledge on root formation.
PubMed: 26578979
DOI: 10.3389/fphys.2015.00307 -
Open Medicine (Warsaw, Poland) 2018A review of numerous case reports was made, in order to demonstrate the possibilities for treatment of dental disorders in patients with Cleidocranial dysplasia (CCD)....
A review of numerous case reports was made, in order to demonstrate the possibilities for treatment of dental disorders in patients with Cleidocranial dysplasia (CCD). In this paper, our own report, including a diagnosis of the effect on the auditory system, is presented. In addition to the triad of CCD symptoms that include hypoplastic or aplastic clavicles, impacted and supernumerary teeth, delayed closure of fontanelles and cranial sutures, impairment of the hearing system resulting in conductive hearing loss also occurs. Our own report is based on the case of a 12-year-old CCD patient, in whom Cone Beam Computed Tomography (CBCT) revealed the presence of 12 supernumerary teeth. Furthermore, a clinical examination pointed to the presence of retained deciduous teeth and a delayed eruption of permanent teeth. Orthodontic-surgical procedures were implemented, in accordance with the literature. During the course of the orthodontic treatment, a decrease in auditory sensitivity was observed, for which reason hearing tests were also performed. Conductive hearing loss was detected. As such, it is important to remember that in such cases, auditory check-ups need to be performed between the many surgical and orthodontic interventions, which usually last a few years.
PubMed: 29520374
DOI: 10.1515/med-2018-0001