Schwartz-Jampel syndrome: a review of the literature and case report

Schwartz-Jampel syndrome (SJS) is a rare autosomal recessive skeletal dysplasia associated with myotonia. The manifestations of SJS include short stature, blepharophimosis, and skeletal anomalies. The combination of skeletal and muscular abnormalities may result in oro-dental manifestations such as atypical facies, with micrognathia, microstomia, pursed lips, crossbite, cleft palate, as well as mandibular hypoplasia, the risk of dentigerous cysts, and impacted teeth. The use of general anesthesia in patients with SJS is dangerous, as there is a risk of malignant hyperthermia. The purpose of this paper is to describe a 3-year-old Chinese boy diagnosed with SJS at birth. His intra-oral examination revealed significant dental findings such as dentin defects with generalized attrition and hypodontia of the permanent dentition. Comprehensive dental treatment was provided at the same time as lower right limb surgery to reduce the potential complications with general anesthesia.     

Concomitant occurrence of hypohyperdontia in a patient with Marfan syndrome: a review of the literature and report of a case

Marfan syndrome is an autosomal dominant genetic disorder of connective tissue origin that can affect multiple organs. Various oral manifestations have been associated with this syndrome. Hypohyperdontia is a condition of mixed numeric variations that presents a combination of hypodontia with hyperdontia within a single human dentition. The purpose of this paper is to report a case of Marfan syndrome with a concomitant occurrence of hypohyperdontia. A narrative review was also included to describe the other syndromes that had been associated with concomitant hypohyperdontia.     

Kabuki syndrome: a case report

Abstract

This article reports the case of an 8-year-old female with Kabuki syndrome and the oral/dental implications of this syndrome, namely hypodontia with interdental spacing, abnormal tooth morphology, malocclusion and a defect in the anterior midline of the palate. The oral findings will aid the clinician in diagnosing this syndrome, which was once thought to be seen exclusively in the Japanese population.     

Lowe syndrome: literature review and case report

Abstract

This paper is the first to describe dental findings and orthodontic characteristics of a young adult patient with Lowe syndrome. This syndrome is a rare genetic disorder inherited by a sex-linked pattern, involving primarily the kidneys, eyes and nervous system, which also present oral manifestations. This paper also present the results of careful extra and intra-oral evaluations and the findings of panoramic and cephalometric radiographs of an 18-year-old male with Lowe syndrome.     

Marfan syndrome: a review of the literature and case report

Marfan syndrome (MFS) is a connective tissue disorder of variable inheritance that affects multiple organ systems. Cardiovascular, ocular, and skeletal abnormalities are cardinal features of the syndrome. Orofacially, MFS patients typically exhibit skeletal class II malocclusion, dolichofacial growth pattern, mandibular retrognathia, malar hypoplasia, high arched palate, dental crowding, and root anomalies. The purpose of this paper is to provide a review of the literature, as well as describe an 11‐year‐old female with MFS diagnosed at the age of 10.5 years. This report emphasizes the orofacial findings in MFS and highlights particularities of dental treatment when social deficits and intellectual disabilities are also implicated.     

Endodontic-related paresthesia: a case report and literature review

Introduction

Endodontic-related paresthesia is a potential complication despite the development of endodontic materials and techniques. We describe a case of periapical lesion-induced paresthesia that was successfully treated endodontically. The literature review of endodontic-related paresthesia is also presented.

Methods

The patient sought treatment from a general practitioner for lower lip paresthesia as the only symptom. Paresthesia was present on the left side of the lower lip extending from the mandibular midline to the second premolar both extraorally and intraorally in the area of mental nerve stem. Apical lesion of an endodontically treated second premolar with short obturation was observed radiographically. Retreatment was unsuccessful at reaching the apex; instead, swelling, pain, and extension of numbness on the region resulted, and the patient was referred to an endodontist.

Results

The root canal chemomechanical debridement was completed, and calcium hydroxide was placed for the follow-up. Two months later the symptoms had significantly improved, the radiograph indicated partial healing, and the tooth was obturated. The healing progressed so that the symptoms completely resolved within a year after the treatment.

Conclusions

Periapical pathosis might cause paresthesia with a good potential for healing after appropriate endodontic treatment. Complications might be prevented by careful preoperative examination, good quality radiographs, and good instrumentation, irrigation, and obturation techniques. However, according to the literature paresthesia might still occur. In case of treatment-related paresthesia in which apical extrusion of endodontic materials is observed, the need for surgical debridement (especially in cases of extrusion of obturation materials) should be considered within 48 hours.     

AEC综合征1例报告及文献复习

AEC综合征是一种罕见的以睑缘黏连、外胚层发育不全及面裂为主要临床表征的基因病。目前,国内尚未见该病的报道。本文报告1例AEC综合征病例,根据患者的临床表现,制订相应的治疗方案,手术修复左侧唇裂,术后患者外形有一定改善。通过文献复习,对AEC综合征的病因、临床表现、鉴别诊断及序列治疗进行了讨论。由于AEC综合征临床表现多样,严重影响患者面容及生长发育,因此,应增强对本病的认识,并进行系统序列治疗。     

Implants in children with ectodermal dysplasia: a case report and literature review

The replacement of teeth by implants is usually restricted to patients with completed craniofacial growth. Implant insertions in children or adolescents are circumvented due to several unfavorable potential effects including trauma to tooth germs, tooth eruption disorders and multidimensional restrictions of skeletal craniofacial growth. Moreover, the functional and esthetic results of the oral rehabilitation are only temporary acceptable. However, to a small number of pediatric patients suffering congenitally from severe hypodontia caused by syndromes such as ectodermal dysplasia, conventional prosthodontic rehabilitations are insufficient. We report the case of a boy with ectodermal dysplasia who exhibited a severe hypodontia and who was treated with implants inserted into the anterior mandible at the age of 8 years. The implants were functionally loaded and resulted in a high patient satisfaction. We recommend the early insertion of dental implants in children with severe hypodontia. Reviewing the current literature, several aspects of syndromic hypodontia, patient selection and implant planning are discussed.     

歌舞伎综合征伴先天性膈疝一例及相关文献回顾

歌舞伎综合征（KMS）首次由日本报道,发病率约1/32 000。该疾病常伴发多种先天畸形,但目前没有明确的诊断标准。KMS主要通过5个临床表现来诊断：（1）特殊面容;（2）骨骼异常;（3）皮纹异常;（4）轻中度智力发育落后;（5）身材短小。除此之外,其他的特殊表现也有助于诊断该疾病,但是该综合征伴发先天性膈疝（CDH）较罕见。本文报道了1例12月龄KMS患儿伴发CDH和腭裂。该病例提示对于KMS患者有必要进行全面的体格检查,同时全面的麻醉管理也非常重要。     

McCune-Albright综合征伴甲状腺功能亢进1例报告及文献复习

McCune-Albright综合征（MAS）是一种临床罕见的疾病,其典型三联征包括多骨性骨纤维异常增殖症、牛奶咖啡色斑及性早熟。本文报告1例伴有甲状腺功能亢进的McCune-Albright综合征患者,并通过相关文献复习,阐述MAS的病因、临床表现、诊断及治疗等。     

Sjogren syndrome: a review of the literature and a case report

Sj?gren syndrome is one of the most prevalent autoimmune diseases in which the body's immune system mistakenly attacks its own moisture producing glands. Although Sj?gren syndrome occurs in all age groups in both women and men, women in their fourties are the most affected. Sj?gren's syndrome can occur alone or in the presence of another connective tissue disease, respectively called primary and secundary Sj?gren syndrome. When two of the three clinical hallmarks: keratoconjunctivitis sicca, xerostomia or connective tissue disease are present, Sj?gren 's syndrome should be considered. To confirm the diagnosis of Sj?gren's syndrome several tests are required. e.g. blood tests, ophthalmologic tests and oral tests. Rheumatologists have the primary responsibility for managing Sj?gren's syndrome. Other specialists can treat the related symptoms. The incidence of lymphoma is higher in patients with Sj?gren's syndrome than in the general population. Therefore patients must be monitored carefully for the development of related autoimmune diseases, lymphoma and other complications. Sj?gren's syndrome is serious but generally not fatal if complications are diagnosed and treated early.     

Lowe syndrome: literature review and case report

This paper is the first to describe dental findings and orthodontic characteristics of a young adult patient with Lowe syndrome. This syndrome is a rare genetic disorder inherited by a sex-linked pattern, involving primarily the kidneys, eyes and nervous system, which also present oral manifestations. This paper also present the results of careful extra and intra-oral evaluations and the findings of panoramic and cephalometric radiographs of an 18-year-old male with Lowe syndrome.     

Saethre-Chotzen syndrome: review of the literature and report of a case

Saethre-Chotzen syndrome is an autosomal acrocephalosyndactyly syndrome whose gene has been assigned to chromosome 7p (TWIST). A case of a 13-year-old girl with Saethre-Chotzen syndrome (ACS III) is described. The features of the syndrome include: turriplagiocephaly with a cranial circumference of 52 cm, facial asymmetry, low hairline, proptosis, antimongoloid slanting of palpebral fissures, nasal deviation with high bridge, angled ears, scoliosis and torticollis, clinodactyly of the fourth and fifth toes, large halluxes, and neurosensorial hypoacusia. For correction of the deformity, a cranioorbital remodeling was performed. The craniofacial approach with remodeling of the frontal bar and reduction of the turricephaly resulted in a satisfactory morphological and functional outcome, with complete three-dimensional reshaping and remodeling of the frontonasoorbital area.     

G syndrome: a review of the literature and a case report.

In 1969, Opitz et al. reported the first case of G Syndrome (Opitz-Frias Syndrome). They presented their clinical observations on 4 brothers from the 'G Family' who shared a constellation of findings with a generalised tendency to midline defects. Major manifestations of this multiple congenital anomaly syndrome include hypertelorism, prominent forehead, cleft lip and palate, narrow palpebral fissures with epicanthal folds, dysphagia, stridor, laryngotracheal oesophageal clefts, and hypospadias. The most significant manifestation of a midline field developmental defect in these infants is aspiration which poses the greatest threat to life. Urgent evaluation should include a water-soluble contrast oesophagram and aerodigestive endoscopy. In addition to repair of the laryngeal cleft, which occurs in approximately 30% of the cases, a tracheostomy, feeding gastrostomy, and Nissen fundoplication are often needed. We report a male infant born with G. syndrome. BBB Syndrome (Opitz Syndrome) is also discussed which bears a striking resemblance to the G Syndrome; in fact, they may be variants of the same allelic syndrome.     

Mobius syndrome: a dental hygiene case study and review of the literature

Mobius syndrome, a rare, non-progressive, congenital neuromuscular disorder, presents with multiple dental and medical complications. Signs and symptoms of this condition include: congenital, bilateral or unilateral palsies of the facial and abducens cranial nerves (cardinal sign), and a broad scope of multisystem abnormalities, which may or may not include the following: opthalmoplegia externa, lingual palsy, clubfoot, branchial malformation, ptosis, mental retardation, and pectoralis muscle defect. From a dental standpoint, a number of anomalies may manifest, including: multiple congenitally missing teeth (both deciduous and permanent), micrognathia, paralysis and hypoplasia of the tongue, absence of facial expression and weakness of the palate. This article reviews the case study of a 40-year-old male client with Mobius syndrome, dental hygiene diagnosis (DHDx) and intervention, and the dental hygienists' responsibility and role in care.     

Cockayne's syndrome: literature review and case report.

Cockayne's syndrome is a rare, autosomal recessive disorder characterized clinically by cachectic dwarfism, cutaneous photosensitivity, loss of adipose tissue, mental retardation, skeletal and neurological abnormalities, and pigmentary degeneration of the retina. Dental caries is a common finding. The case of a 4-year-old male with Cockayne's syndrome is presented. A dental rehabilitation involving outpatient surgery is described including the difficulties encountered because of a small oral cavity and restricted mandibular range of motion.     

Traumatic Eagle's syndrome: report of a case and review of the literature

A case of a styloid process fracture, or traumatic Eagle's syndrome is reported, and a review of the literature is provided. Although most patients with this rare type of fracture are treated with conservative therapy, some require surgical removal of the fractured process to alleviate their symptoms. This was necessary in the patient described.