1/62. Dental and craniofacial features of Aarskog syndrome: report of a case and review of literature.Aarskog syndrome is a rare syndrome with a typical triad of facial, digital and genital characteristics. The characteristic cephalometric finding in this patient was the unusually large upward slant of SN plane and a steep Ba-N plane. Though the patient presented with a class I skeletal pattern, both the maxilla and mandible were hypoplastic and retruded with respect to the cranial base. Other characteristic features regarding the mandibular morphology were a large FMA (37 degrees) and Sn-GoGn (44 degrees) angles, a large gonial angle (138 degrees), an increase in total anterior facial and lower anterior facial height.- - - - - - - - - - ranking = 1keywords = mandible, lower (Clic here for more details about this article) |
2/62. Midface distraction.Since the initial application of distraction osteogenesis to the human mandible by McCarthy, distraction osteogenesis has been used for gradual lengthening of the midface in children with syndromic craniosynostosis, cleft lip and palate, hemifacial microsomia, and midface hypoplasia from other causes. Both external and internal devices are available that permit midface distraction. The background of midface distraction and the development of a Modular Internal Distraction (MID) system that permits widespread use of easily customized, buried distraction devices throughout the craniofacial region are presented. The relative and potential clinical indications for distraction, treatment planning, patient preparation, and possible surgical orthodontic interactions during distraction, as well as a variety of case examples showing the MID system, are discussed.- - - - - - - - - - ranking = 0.98092860700304keywords = mandible (Clic here for more details about this article) |
3/62. Distraction osteogenesis in silver Russell syndrome to expand the mandible.Distraction osteogenesis is a method commonly used to activate bone regeneration in nonunions and osseous defects and for lengthening procedures of tubular bones. This technique involves the sectioning of a bone and the subsequent deliberate, controlled movement of the opposing sectioned edges to lengthen, widen, or reposition a bone, or all three. In this report, a patient with silver Russell syndrome and severe mandibular hypoplasia was treated by means of distraction osteogenesis of the midsymphysis to widen the mandible in concert with sagittal-ramus osteotomies to lengthen the mandible. This treatment created significantly increased arch length in the mandible, which was necessary to facilitate the patient's orthodontic treatment. We believe this is the first reported case of distraction osteogenesis to widen the mandible with the use of a tooth-borne appliance.- - - - - - - - - - ranking = 7.8474288560243keywords = mandible (Clic here for more details about this article) |
4/62. Duplication of 7p21.2-->pter due to maternal 7p;21q translocation: implications for critical segment assignment in the 7p duplication syndrome.We describe a 1-year-old boy with mental and physical retardation, a large anterior fontanel, brachycephaly with flat occiput, short and stubby fingers, generalized hypotonia, ocular hypertelorism, low-nasal bridge, long philtrum, high-narrow palate, apparently low-set ears, and a small mandible. cytogenetic analysis utilizing high resolution chromosome banding technique showed an unbalanced karyotype consisting of 46,XY,add(21)(q22.3) that originated from maternal balanced translocation between chromosomes 7 and 21. fluorescence in situ hybridization (FISH) using micro-dissected library probe pool from chromosome 7 confirmed the additional material on 21q was derived from chromosome 7. Our results indicated that the patient had an unbalanced translocation, 46,XY, der(21)t(7;21)(p21.2;q22.3)mat, which resulted in duplication for distal 7p. Our patient is similar to reported cases with a 7p15-->pter or larger duplication of 7p, suggesting that the critical segment causing the characteristic phenotype of 7p duplication syndrome, including large anterior fontanel, exists at 7p21.2 or 7p21.2-->pter.- - - - - - - - - - ranking = 0.98092860700304keywords = mandible (Clic here for more details about this article) |
5/62. tooth eruption in a patient with craniometaphyseal dysplasia: case report.Craniometaphyseal dysplasia (CMD) is a very rare genetic disorder of bone remodeling caused by osteoclast dysfunction. The clinical and radiographical features of oral findings are presented in a sporadic case of CMD in a child (age 10 years, 7 months). An intraoral examination showed severe malocclusions, including anterior crossbite and deep bite. Furthermore, a radiographic examination showed increased radiopacity of the maxilla and mandibular bones due to hyperostosis and sclerosis of the jaw. There was no root resorption of the canines or molars in the primary dentition, although root formation of the permanent teeth was proceeding. Dental age was calculated to be approximately 1 year, 4 months younger than his chronological age. The eruption speed of the permanent lateral incisors after the gingival emergence was shown to be within normal values, and we discuss whether the canines and premolars in the permanent dentition could erupt or not.- - - - - - - - - - ranking = 0.079504918617633keywords = jaw (Clic here for more details about this article) |
6/62. Transmission of the dysgnathia complex from mother to daughter.We report the first observation of parent-to-child transmission of dysgnathia, a rare disorder characterized by severe mandibular hypoplasia or agenesis, ear anomalies, microstomia, and microglossia. Patient 1 was noted prenatally by ultrasound to have severe micrognathia and, after birth, abnormal ears with canal stenosis and non-contiguous lobules located dorsally to the rest of the pinnae, normal zygomata, severe jaw immobility and microstomia with an opening of only 4 to 5 mm, hypoplastic tongue, and cleft palate. The 21-year-old mother of patient 1 was born with severe micrognathia requiring tracheostomy, microglossia, cleft palate with filiform alveolar bands, abnormal pinnae, and decreased conductive hearing. Dysgnathia is thought to result from a defect in the development of the first branchial arch. A similar phenotype has been seen in Otx2 haplo-insufficiency and endothelin-1 homozygous null mice, suggesting that these genes contribute to branchial arch development. Our report of a long-surviving mother and her daughter with non-syndromal dysgnathia may lead to identification of the molecular basis of these findings and provide insight into the genetics of first branchial arch formation. The survival of patient 1 and patient 2 beyond the neonatal period has implications for improvements in prenatal diagnosis and counseling and for neonatal treatment of this condition.- - - - - - - - - - ranking = 0.079504918617633keywords = jaw (Clic here for more details about this article) |
7/62. Progressive erosive arthropathy with contractures, multicentric osteolysis-like changes, characteristic craniofacial appearance, and dermatological abnormalities: a new syndrome?We report a 27-year-old man with an apparently new syndromic form of progressive erosive arthropathy and contractures of small and large joints associated with mild epiphyseal changes, normal vertebrae, and generalized osteopenia. The patient had a characteristic craniofacial appearance, dermatological abnormalities, and normal intelligence. The head was large with frontal bossing. The face was elongated with malar hypoplasia, thin upper lip, prominent lower jaw, high arched palate, dental malocclusion, and prominent ears with absent ear lobules. Dermatological abnormalities included malar erythema and facial telangiectasia together with multiple nevi and lentigenes all over the body. Pseudorheumatoid arthropathy, spondyloarthropathy, and Borrone dermatocardioskeletal syndrome were considered in the differential diagnosis and were excluded. Also, no similar cases have been found in POSSUM or the london Dysmorphology databases.- - - - - - - - - - ranking = 0.098576311614591keywords = jaw, lower (Clic here for more details about this article) |
8/62. fraser syndrome with bladder pseudoexstrophy.We report a one year old girl with fraser syndrome (the association of craniofacial abnormalities, syndactaly and cryptophlamos) and multiple urogenital abnormalities including clitorimegaly, left renal agenesis and a unique urinary bladder exstrophy variant (psuedoexstrophy) with intact bladder which herniates through the lower abdominal wall defect.- - - - - - - - - - ranking = 0.019071392996958keywords = lower (Clic here for more details about this article) |
9/62. A longitudinal evaluation of craniofacial growth in a patient with Kabuki make-up syndrome: a case report.The purpose of this investigation was to evaluate the craniofacial growth of a patient diagnosed with Kabuki make-up syndrome (KMS). Craniofacial growth was assessed by analysing lateral cephalometric radiographs with an interval of 12-15 months. They were taken from 6 years 9 months to 14 years 2 months. Angular and linear measurement analyses of the craniofacial complex showed a hypoplastic maxilla and a constricted maxillary basal arch width. The mandibular size was relatively large and had started to increase from 13 years 4 months. This resulted in a prognathic face caused by forward growth of the mandible and insufficient growth of the maxilla. The skeletal pattern was Class III. open bite morphology with a steep mandibular plane (SN-MP), a relatively short ramus, and a large gonial angle were also observed. In this subject, the facial dysmorphism found in the maxilla and mandible may have been influenced by several factors. connective tissue disorder, macroglossia, lower tongue posture, and tongue thrust swallowing have been identified as possible aetiological factors that may determine dysmorphism in the craniofacial complex in this KMS patient.- - - - - - - - - - ranking = 1.980928607003keywords = mandible, lower (Clic here for more details about this article) |
10/62. sotos syndrome with enamel hypoplasia: a case report.A rare case of sotos syndrome with enamel hypoplasia is described. Dental abnormalities include enamel hypoplasia, expansion of the pulp cavity, high arched palate, and absence of the bilateral pre-molar teeth of the mandible.- - - - - - - - - - ranking = 0.98092860700304keywords = mandible (Clic here for more details about this article) |
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