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Stickler syndrome (MIM 108300, 604841, 184840) is an autosomal dominant disease characterized by midfacial flattening and variable disorders of vision, hearing and articulation. There are three types of the syndrome caused by mutations in different genes (type 1, COL2A1; type 2, COL11A1; and type 3, COL11A2). About 20% of type 1 patients have cleft palate or bifid uvula, but there have been no case reports of orthodontic treatment of this syndrome so far. The Japanese female patient presented here with Stickler syndrome was characterized by a flat midface and had high myopia, sensorineural hearing loss, enlarged joints, and cleft of the soft palate. She had fairly small SNA and SNB angles and a steep mandibular plane with an enlarged gonial angle. The incisors of both arches were retroclined, and a large overjet and overbite were noted. Orthodontic treatment was initiated at 11 years of age using a lingual arch appliance followed by an edgewise multibracket appliance. Stable functional occlusion was obtained after the treatment. Most of the other seven Stickler syndrome patients exhibited pretreatment characteristics of small SNA and SNB angles, steep mandibular planes, enlarged gonial angles, and retroclined incisors of both arches, demonstrating the characteristic skeletal and occlusal features of this syndrome. 相似文献
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Kanghyun Kim Kwantae Noh Janghyun Paek Kung-Rock Kwon Ahran Pae 《The journal of advanced prosthodontics》2015,7(5):406-410
Russell-Silver syndrome (RSS) is a congenital disease characterized by short stature due to growth hormone deficiency, physical asymmetry, inverted triangular face, micrognathia, prominent forehead, and hypodontia. This case report presents a prosthetic management of a 6-year-old patient with Russell-Silver syndrome treated with overdentures on the maxilla and the mandible using the remaining primary teeth. Subsequent and comprehensive dental management considering the growth and development of a young patient will be necessary. 相似文献
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McAuliffe NJ Hunter ML Kau CH Hunter B Knox J 《International journal of paediatric dentistry / the British Paedodontic Society [and] the International Association of Dentistry for Children》2005,15(2):127-130
Hyperimmunoglobulinemia E recurrent infection syndrome (also known as Job's syndrome) is a rare multi-system primary immunological disorder in which non-immunological abnormalities of the dentition, bones and connective tissue are also seen. A previous study has reported the occurrence of dental abnormalities in three-quarters of individuals diagnosed as suffering from this condition. The present authors report the case of a boy whose prolonged retention of the primary dentition was associated with delayed eruption of permanent teeth. They emphasize the need for early intervention in order to help minimize later orthodontic problems. 相似文献
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Marina de Deus Moura de Lima DDS MsC ; Karem Lopez Ortega DDS PhD ; Luis Carlos Arias Araújo DDS ; Marcelo Melo Soares DDS ; Marina Helena Cury Gallottini de Magalhães DMD PhD 《Special care in dentistry》2009,29(6):244-248
Klippel–Feil syndrome (KFS) is a rare congenital abnormality characterized by a short neck, a low posterior hairline, and limited head movement. Occasionally, patients with KFS may also show signs of deafness, intellectual disability, cardiac malformation, palpebral ptosis, facial nerve paralysis, cleft palate, and scoliosis. Although some researchers have documented this syndrome, scant attention has been paid to craniomaxillofacial manifestations and dental treatment of patients with KFS. The objective of this case report was to describe the planning and execution of dental treatment for a 10-year-old male patient with KFS. 相似文献
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Faye Huang Hsi-Kung Kuo Ching-Hua Hsieh Jui-Pin Lai Philip Kuo-Tin Chen 《Journal of cranio-maxillo-facial surgery》2007,35(2):76-80
BACKGROUND: The most frequent diagnosis in patients with syndromic Pierre Robin sequence is Stickler syndrome, which may be complicated by congenital high myopia and substantial risk of retinal detachment. However, cases of Stickler syndrome with probable visual complications are rarely identified among this group of patients by members of the cleft team. This study was designed to determine the prevalence of Stickler syndrome among the author's group of patients with Robin sequence, and to investigate the visual outcome among paediatric patients with Robin sequence and Stickler syndrome. MATERIAL AND METHODS: Eight children (six male and two female) with Stickler syndrome and Robin sequence were referred to be followed up every 6 months in the Ophthalmologic Department because of high myopia at less than 10 years of age. Three patients came from the author's study group and five were referred by other cleft surgeons. They were examined with repeat ophthalmic and indirect fundus examinations including cycloplegic refraction, and slit lamp biomicroscope examinations. Laser photocoagulation (2 cases) treatment for retinal degeneration or operation (3 cases) for retinal detachment was performed once evidence of significant ophthalmologic finding was noted. RESULTS: Of the 91 cases of newborns with isolated cleft palate treated by the first author, eight patients had Robin sequence, and among these, three had Stickler syndrome. The prevalence of Stickler syndrome among this subgroup of patients was 37.5% (3/8). Among these three patients and the additional five referred by other cleft surgeons, the average spherical equivalents of the first cycloplegic refraction for the 16 eyes was -12.39+/-2.72 diopter (D) (range -8.75 to -18.5D). Of the eight patients, five did not need any therapy, two children had retinal degeneration in the left eye and retinal detachment in the right eye while one child had retinal detachment in the right eye only. Laser photocoagulation was performed in the two left eyes with retinal degeneration and was successful. Surgery was performed on the three eyes with retinal detachment, one was successful while two failed and the patients developed total blindness at ages four and six respectively. Out of these three children with retinal complications, only one child remained free of visual deterioration in both eyes during the follow-up period. CONCLUSION: Early identification of Stickler syndrome in children with Robin sequence by cleft surgeons is necessary to insure early referral to an ophthalmologist for detection of myopia, monitoring for retinal detachment, and prevention of visual complications. 相似文献
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Mobius syndrome is a rare congenital disorder with the primary diagnostic criteria of congenital facial and abducent nerve palsy. Orofacial anomalies and limb malformations may be associated with the disorder. Involvement of other cranial nerves also is common. Occasionally, the V, X, XI, and XII cranial nerves are involved, resulting in difficulty of chewing, swallowing, and coughing, which often leads to respiratory complications. Mental retardation and autism have been reported in some cases. An 18–year-old Hispanic male came to the General Practice Residency clinic at the University of Illinois at Chicago for dental treatment. The patient had a history of Mobius syndrome, mental retardation, and behavioral problems. Because of acute situational anxiety and violent behavior, we arranged for the patient to have general anesthesia while we provided complete oral rehabilitation. This article discusses the treatment of a patient, including special considerations taken during anesthesia and dental management. A review of the special challenges concerning patients with such a condition are reviewed. 相似文献
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Avula H 《Special care in dentistry》2012,32(2):66-69
Mauriac syndrome is a rare condition that affects people with uncontrolled diabetes. The case history of a 17-year-old female patient diagnosed with Mauriac syndrome and concurrently suffering from type 1 diabetes mellitus (T1DM), stunted growth, hepatomegaly, and severe periodontal disease is described. Non-surgical periodontal therapy was the treatment provided. Severe periodontal destruction was seen in conjunction with the unique features of this syndrome, such as hepatomegaly, dwarfism, moon-shaped face, cushingoid fat deposition, delayed puberty, and brittle diabetes. Treatment resulted in decreased plaque and gingival scores. A bi-directional relationship has been established between diabetes mellitus and periodontal disease and there is an increasing emphasis on perio-systemic interrelationships. Given the effect that such systemic disorders have on periodontal health, periodontists should be involved in the early diagnosis and treatment of such patients. 相似文献
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Higuchi H Maeda S Miyawaki T Kohjitani A Mori T Ishida R Egusa M Shimada M 《Oral surgery, oral medicine, oral pathology, oral radiology, and endodontics》2007,103(3):e26-e29
Takotsubo cardiomyopathy (TCM) is a relatively new concept in cardiovascular disease. The clinical symptoms of TCM are similar to those of a myocardial infarction, but both the mechanism and the management of TCM are different from those of myocardial infarction. The cause of TCM is unclear, but it is suggested to occur in conjunction with excessive circulating catecholamines due to stress. Thus, control of the stress reaction and restriction of catecholamine levels are considered important for prevent of TCM onset. We report the dental management of a patient with intellectual disability who had anamnesis of TCM and cardiopulmonary arrest under restraint during a previous dental appointment in another dental clinic. We used intravenous sedation with both midazolam and propofol, by which the excessive hormonal reaction that caused TCM onset and cardiopulmonary arrest was controlled, for dental treatment in our facility. All planned dental treatment was then performed without any problems. 相似文献
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Mastocytosis is a heterogeneous group of clinical disorders characterized by an excessive number of normal mast cells in a variety of tissues (skin, bone marrow, liver, spleen and lymph nodes). It is most often seen in the skin in pediatric-onset mastocytosis presenting as urticaria pigmentosa. Children with this disorder are on a strict avoidance protocol of triggering factors to decrease the likelihood of life-threatening anaphylactic reactions. Close monitoring and the avoidance of known histamine-releasing drugs is necessary in the pediatric dental office, as is a readiness to use resuscitative measures. A case of a 4-year, 6-month-old pediatric dental patient with mastocytosis is presented. Dental treatment was provided in an ambulatory setting utilizing nitrous oxide, oxygen analgesia and H1 and H2 antihistamines to prevent mast cell degranulation and to provide sedation. 相似文献
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A case is reported of dental implant placement in a 13-year-old patient diagnosed with Papillon-Lefevre Syndrome. Two titanium dental implants were placed in the mandible for an implant-retained denture after the patient complained of having an unstable prosthesis. Follow-up radiographs showed successful osseointegration and preservation of alveolar bone 1 year after implant placement and the continual wearing of a functional dental prosthesis. 相似文献
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《Orthodontic Waves》2007,66(2):52-59
At the age of 10 years and 10 months, a patient was brought to our office with a chief complaint of dental crowding and narrow maxilla. She had been diagnosed as having Pierre–Robin sequence at birth. She showed a convex profile with Class II molar relationship. The dental relationship was corrected with headgear and functional appliance in phase I orthodontic treatment. Optimal intercuspation of the teeth achieved after edgewise treatment and good facial profile with Class I relationship were obtained. When she started retention at the age of 17 years, she was diagnosed as having Stickler syndrome. Although slight reduction of the mandible was observed after a retention period of 5 years, optimal intercuspation of teeth was maintained. 相似文献
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Epidermolysis bullosa represents a group of hereditary skin disorders manifested by an exceptional tendency of the skin and mucosa to form bullae and vesicles as a result of trauma or friction. Comprehensive dental care for precooperative-age children with this disorder frequently is managed in the operating room under a general anesthetic. This case report describes an anesthetic protocol for dental management which was effective and resulted in minimal postoperative trauma. Eucerin cream, Gauztex bandages, and DuoDerm pads were used to lubricate and stabilize anesthetic armamentarium. Preoperative and postoperative erythromycin antibiotic therapy was instituted to prevent infection of the bullae present. Early diagnosis and institution of preventive measures can minimize the need for restorative and surgical management in these children. However, when anesthetic management is necessary, the use of appropriate consultants and adjuncts can provide valuable support. 相似文献
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Recent advancements in the field of cancer diagnosis and chemotherapy have led to higher rates of survival for children with malignant tumors. More than 75% of pediatric patients diagnosed with malignancies survive more than 5 years. These advancements have resulted in additional responsibilities for dental professionals to diagnose, evaluate, prevent, stabilize, and manage the oral and dental problems that can compromise the quality of life of these children. This case report highlights the importance of professional and self-administered oral prophylactic measures and patient compliance in the successful oral rehabilitation of a pediatric patient with Burkitt lymphoma. 相似文献
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Rupali Agnihotri BDS ; Khandige Mahalinga Bhat MDS ; Giliyar Subraya Bhat MDS MFGDP ; Pratibha Pandurang MDS 《Special care in dentistry》2009,29(3):141-144
This article describes the periodontal management of a patient with severe aplastic anemia. A 51-year-old female patient was hospitalized with aplastic anemia and was referred for the management of her cyclosporine-induced gingival enlargement and bleeding from her gums. She also complained of pain in the palatal area and the mandibular anterior region. The patient was managed successfully with supra- and subgingival instrumentation, local drug delivery (LDD), electrosurgery, repeated oral hygiene instruction, and constant supervision. The treatment resulted in dramatic improvement in the patient's oral health and quality of life. This report highlights the importance of nonsurgical therapy followed by electrosurgery for the management of residual gingival enlargement. 相似文献