1/21. Combined surgical and orthodontic management of the oral abnormalities in children with cleidocranial dysplasia.Children with cleidocranial dysplasia have dental abnormalities which combine to prevent normal tooth eruption, and which if untreated may result in abnormal facial and jaw growth. A technique combining orthodontics and oral surgery has resulted in the establishment of excellent occlusion and facial appearance in these patients. Recent advances in direct enamel bonding techniques for orthondontic attachments have permitted a conservative surgical approach with minimal bone removal during surgery to expose unerupted teeth prior to orthodontic treatment.- - - - - - - - - - ranking = 1keywords = jaw (Clic here for more details about this article) |
2/21. Popliteal pterygium syndrome in a Swedish family--clinical findings and genetic analysis with the van der Woude syndrome locus at 1q32-q41.The present study describes a Swedish family in which the mother and her son were affected with signs of popliteal pterygium syndrome (PPS, OMIM 119500). Both individuals had bilateral complete cleft lip and palate, oral synechiae, paramedian pits on the lower lip, toe syndactyly and a piece of triangular skin overgrowth on the great toes. The son also presented with soft tissue syndactyly of the 2nd and 3rd fingers. Although popliteal pterygium was not found, the above clinical features were diagnostic for PPS. Chromosomal abnormalities were not revealed in either case by cytogenetic analyses. A test for microdeletion in the VWS region at 1q32-q41 was performed in the family using 5 polymorphic microsatellite markers from the region. The affected son was found to be heterozygous for all 5 markers, suggesting that microdeletion at the VWS region was unlikely. The VWS locus, however, was not excluded by haplotype analysis of the family.- - - - - - - - - - ranking = 0.019846057477713keywords = lower (Clic here for more details about this article) |
3/21. A new arthrogryposis syndrome with facial and limb anomalies.A new familial syndrome of facial and limb anomalies was shown in a 4-month-old girl. Small mouth and jaw with limited jaw movement were seen in infancy, with growth to relatively normal size and movement in adulthood, but with a persistent, deep, horizontal depression just above the chin. Mild short stature and microcephaly as well as large ears with lack of the anthelix were present in family members. Severe flexion contractures of the hands and feet were present and led to subluxation of fingers and club feet in the most severely affect child. Marked variability among family members was seen, but a dominant inheritance seems likely.- - - - - - - - - - ranking = 2keywords = jaw (Clic here for more details about this article) |
4/21. Orofacial findings in the Klippel-Trenaunay syndrome.The Klippel-Trenaunay syndrome is a triad of congenital anomalies characterised by haemangiomas, varicosities, and unilateral bony and soft tissue hypertrophy. hypertrophy usually affects one distal limb, but trunk or face may be affected. Cutaneous haemangiomas (nevus flammeus) of varying extent and irregular contour are often present in the hypertrophic regions. Varicosities may also be part of the vascular lesions of the syndrome. Orofacial manifestations include facial asymmetry, jaw enlargement, and malocclusions as well as premature tooth eruption. Two cases of the Klippel-Trenaunay syndrome are presented here. Both of these show the typical hemifacial hypertrophy and premature eruption of teeth on the affected side. In the first case only the left mandibular region was affected. In contrast, in the second there was hypertrophy of the whole left side of the body including upper and lower jaws. This boy also suffers from congenital ideokinetic retardation, while the first was otherwise normal. Both cases differ from previously reported cases of the Klippel-Trenaunay syndrome in lacking any prominent facial nevus flammeus. In the first case there was also malformation of the crown of the first permanent molar on the affected side that has not been described previously.- - - - - - - - - - ranking = 2.0198460574777keywords = jaw, lower (Clic here for more details about this article) |
5/21. focal dermal hypoplasia: management of complex dental features.A 17 year-old female who presented for treatment of grossly carious lower first molar teeth had multiple features of focal dermal hypoplasia (FDH). These included enamel pitting and hypoplasia, anomalies of shape, size and positioning of teeth, as well as soft tissue papillomas and telangiectasis of tongue. A case report and a synopsis of the syndrome (FDH) are presented, the oral aspects of the condition are reviewed and the management of the complex dental anomalies is discussed.- - - - - - - - - - ranking = 0.019846057477713keywords = lower (Clic here for more details about this article) |
6/21. The Kabuki syndrome: four patients with oral abnormalities.The aim of this paper is to report the oral signs and symptoms of four patients with Kabuki syndrome. All had oral abnormalities affecting the palate, teeth, and/or lips, including wide spacing between the teeth, screwdriver-shaped upper incisors, hypodontia, delayed tooth eruption, narrow spacing in the upper canine area, large pulp chambers of the upper incisors and permanent molars, external root resorption of the upper central incisors and permanent molars, a division of the lower third of the root canal in normally one-rooted teeth, tooth retention, retrognathia of the upper jaw, a high palate or cleft lip/palate, and microforms of lower lip fistula.- - - - - - - - - - ranking = 1.0396921149554keywords = jaw, lower (Clic here for more details about this article) |
7/21. Clinical manifestations of terminal osseous dysplasia and pigmentary defects in a young girl.Terminal osseous dysplasia and pigmentary defects is a rare X-linked dominant disorder with prenatal male lethality. Affected females display multiple systemic abnormalities such as limb deformities and pigmented lesions of the face and scalp. Phenotypic expression of the syndrome varies among the affected individuals. In this case report, we describe the syndromic dental and oral abnormalities in a female child aged 3 and 1/2 years. A widened bigonial width of the mandible and a brachyfacial pattern are observed. Intraoral findings include multiple frenulae, shallow mucobuccal fold, hypodontia, conical incisors, and other developmental structural defects.- - - - - - - - - - ranking = 0.71731990518474keywords = mandible (Clic here for more details about this article) |
8/21. Cleft-palate lateral synechia syndrome: insight into the phenotypic spectrum of Fryns syndrome?BACKGROUND: In 1972, Fuhrmann et al. (Humangenetik 1972;14:196-203) described a novel syndrome consisting of cleft palate (CP) and lateral synechiae (LS) between the palate and the floor of the mouth. This constellation of malformations, since denoted as cleft-palate lateral synechiae syndrome (CPLS), is a rare syndrome; only five cases have been reported since the original description. Because of the paucity of recognized cases, little is known regarding the phenotypic spectrum of this presumably autosomal dominant condition. CASES: We report two unrelated patients who presented with remarkably similar phenotypic features, including multiple intraoral synechiae (filiforme intraalveolar bands), cleft palate, micrognathia, and redundant lower lip tissue. Their phenotypic findings indicate a diagnosis of CPLS; however, case 3 (the monozygotic twin of case 2) had classic phenotypic features of Fryns syndrome. CONCLUSIONS: This report presents two new cases of CPLS, and suggests that the CPLS phenotype may represent the mild end of the Fryns syndrome phenotypic spectrum. Supplementary material for this article can be found on the Birth Defects research (Part A) website (http://www.interscience.wiley.com/ jpages/1542-0752/suppmat/67/fig5.xls).- - - - - - - - - - ranking = 0.019846057477713keywords = lower (Clic here for more details about this article) |
9/21. cleft palate and congenital synechiae syndrome: a case report.OBJECTIVE: A 1-day-old baby girl with a cleft of the secondary palate and a soft tissue band connecting the upper and lower jaws and preventing mouth opening was referred to the cleft lip and palate team by her pediatrician. This case represents a further example of an interesting but rare anomaly known as congenital alveolar synechia syndrome that requires early management to allow normal feeding and oral development.- - - - - - - - - - ranking = 1.0198460574777keywords = jaw, lower (Clic here for more details about this article) |
10/21. Multiple periorbital dermoid cysts, clefting and mental retardation: a new malformation syndrome?We report a child with multiple anomalies that was born to healthy nonconsanguineous parents after an unremarkable pregnancy. The female infant had bilateral cleft lip and palate, bilateral toe syndactyly (second and third with no bony fusion), multiple bilateral periorbital tumors, ectropion, lagophthalmos, strabismus and prominent eyes. High frontal hairline and everted lower lip were also noted. Soon after delivery, she was referred to the 'Cleft Clinic' where she underwent cleft lip and palate repair. Seven dermoid cysts were also removed from both periorbital areas. Follow-up documented moderate developmental retardation, hypothyroidism and hydronephrosis. Although some features of our patient overlap with those described in ectrodactyly, ectodermal dysplasia and cleft lip/palate, Martinez, Zlotogora-Ogur, Filippi, Freihofer and Blepharocheilodontic syndromes, our patient has a combination of features not previously reported.- - - - - - - - - - ranking = 0.019846057477713keywords = lower (Clic here for more details about this article) |
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