1/8. Clinical and radiological evaluation of cherubism: a sporadic case report and review of the literature.Many cases have been published on cherubism since Jones described it first time in three children of the same family [Am. J. Cancer 17 (1933) 946]. cherubism is an autosomal-dominant disorder in which the normal bone is replaced by cellular fibrous tissue and immature bone. Extracranial skeletal involvement is rarely seen in hereditary and non-hereditary forms of the disorder. The mandible is the most severely affected craniofacial component, in which uncontrolled growth of the malady deteriorates the aesthetic balance of the face. Bilateral swelling of the cheeks, mandibular enlargement and maxillary spongious hypertrophy cause orbital manifestations and tendency of eyes looking up to the sky. Thus, the pathognomic clinical feature resembles the appearance of "raised to heaven" Renaissance cherubs. The sporadic case concerns a child affected by cherubism. Radiographic and clinical data of the patient are presented and brief review of the literature is included.- - - - - - - - - - ranking = 1keywords = craniofacial (Clic here for more details about this article) |
2/8. Lacrimo-auriculo-dento-digital syndrome. Case report, review of the literature, and clinical spectrum.Lacrimo-auriculo-dento-digital (LADD) syndrome, also known as Levy-Hollister syndrome, is characterized by pronounced dysplasias in various organ systems. The resulting disturbances affect primarily the lacrimal glands, the inner and outer ear, the salivary glands, and the osseous framework. Although the degree to which the different organs are involved varies considerably, dental anomalies are regularly reported. An autosomal-dominant trait has been recognized for this syndrome, but the majority of cases described in the literature concerned sporadic new mutations. We report on this unusual and relatively unknown syndrome with reference to a 13-year-old girl suffering from LADD syndrome presenting symptoms of severe xerostomia and various craniofacial malformations, hearing loss, enamel dysplasia, microdontia, and hypodontia.- - - - - - - - - - ranking = 1keywords = craniofacial (Clic here for more details about this article) |
3/8. orthognathic surgery for a patient with trichorhinophalangeal syndrome type I: a case report.Trichorhinophalangeal syndrome (TRPS) type I is characterized by slowly progressing systemic osseous dysplasia, exhibiting craniofacial and other skeletal deformities. However, there have been few reports describing this syndrome after undergoing orthognathic surgery. In this report, we present a patient with TRPS I who successfully underwent orthognathic surgery. In addition, we examined the skeletal stability of the patient for 2 years after the surgery.- - - - - - - - - - ranking = 1keywords = craniofacial (Clic here for more details about this article) |
4/8. Orofacial features of Scheie (Hurler-Scheie) syndrome (alpha-L-iduronidase deficiency).Scheie syndrome is a rare inborn error of metabolism, a mucopolysaccharidosis in which deficiency of the lysosomal enzyme alpha-L-iduronidase leads to tissue accumulation of mucopolysaccharides. Scheie syndrome is a forme fruste of Hurler syndrome (gargoylism), and some patients have the phenotype of Hurler-Scheie compound syndrome. The craniofacial abnormalities include coarse facies, mandibular condylar hypoplasia, retarded tooth eruption, and cystic jaw radiolucencies--particularly about the molars. Corneal clouding may lead to blindness but, in contrast to some other mucopolysaccharidoses, mental handicap is rare in Scheie syndrome. Cardiac valve incompetence is common, as are recurrent respiratory infections. Two brothers with Hurler-Scheie syndrome are presented and the oral and systemic complications each patient had described. The syndrome is discussed with particular reference to the orofacial features.- - - - - - - - - - ranking = 1keywords = craniofacial (Clic here for more details about this article) |
5/8. Reduction cheiloplasty: its role in the correction of dentofacial deformities.The presence of prominent lips is common in individuals with various dentofacial and craniofacial deformities. The aetiology must be diagnosed to differentiate between pseudo-macrochelia and true macrocheilia. When considering surgical correction of the prominent lip, a precise description of the location and the magnitude of the deformity is required. With careful treatment planning, proper sequencing of the treatment, and a good understanding of the various surgical techniques, optimum results can be achieved. These aspects will be discussed in detail illustrated with appropriate cases.- - - - - - - - - - ranking = 1keywords = craniofacial (Clic here for more details about this article) |
6/8. Craniofacial manifestations of smith-lemli-opitz syndrome: case report.The smith-lemli-opitz syndrome is characterized by striking craniofacial features, microcephaly, mental deficiency, growth retardation, 2-3 syndactyly of the feet, and genital malformations. We present a patient and discuss dentofacial aspects of the syndrome.- - - - - - - - - - ranking = 1keywords = craniofacial (Clic here for more details about this article) |
7/8. Dental and craniofacial findings in a child affected by glycogen storage disease type III.This paper reports on previously undescribed dentofacial features a child suffering from Glycogen-Storage Disease type III with hepatomegaly and hypertransaminasemia with muscular involvement. Deficient craniofacial development, reduced width of the upper jaw resulting in posterior cross-bite, and taurodontism of the primary dentition were found. Pathogenetic basis for craniofacial abnormalities is discussed. Cooperation between pediatricians and pediatric dentists is strongly recommended for an early diagnosis and treatment of the dentofacial defects of the syndrome.- - - - - - - - - - ranking = 6keywords = craniofacial (Clic here for more details about this article) |
8/8. oral manifestations of severe short-limb dwarfism resembling Grebe chondrodysplasia: report of a case.The oral and dental abnormalities associated with a distinct variety of severe short-limb dwarfism are described. The patient, a 9-year-old Arab boy, had delayed development and eruption of teeth, severe oligodontia of permanent dentition, hypodontia, microdontia, supplemental incisor, enamel hypoplasia of primary teeth, doubled and abnormal frenal attachments, bifid uvula, hypoplastic maxilla, and malocclusion. Clinical and radiographic examinations revealed asymmetric dysplasia and anaplasia of long bones, craniofacial dysmorphia, prominent forehead, budlike fingers and bulbous toes, dysplastic nails, severe hearing loss, and reduced joint mobility. These features resemble, in general, those characteristic of Grebe chondrodysplasia, an extremely rare ill-defined syndrome that is inherited as an autosomal-recessive disorder.- - - - - - - - - - ranking = 1keywords = craniofacial (Clic here for more details about this article) |