| branchio-oto-renal syndrome, first defined in 1976, is an autosomal dominant disorder characterized by anomalies of the external, middle, and inner ear in association with preauricular sinuses, branchial cleft anomalies, and varying degrees of renal dysplasia, including aplasia. Less frequently expressed phenotypic abnormalities include lacrimal duct aplasia and stigmata of renal dysgenesis known as Potter facies. Although the precise incidence of the disorder is unknown, it may be more common than is generally appreciated, and it appears to be distinct from other autosomal dominant otobranchial syndromes. Moreover, not all features of the syndrome are expressed in all carriers of the gene. An unusual case of branchio-oto-renal syndrome with generalized microdontia of the permanent dentition is reported. ( info) |
2/585. Rare dental abnormalities seen in oculo-facio-cardio-dental (OFCD) syndrome: three new cases and review of nine patients. Oculo-facio-cardio-dental syndrome is a very rare condition. So far, only nine cases have been documented. We report on three additional female patients representing the same entity. The clinical findings were: congenital cataract, microphthalmia/microcornea, secondary glaucoma, vision impairment, ptosis, long narrow face, high nasal bridge, broad nasal tip with separated cartilages, long philtrum, cleft palate, atrial septal defect, ventricular septal defect, and skeletal anomalies. The following dental abnormalities were found: radiculomegaly, delayed dentition, oligodontia, root dilacerations (extension), and malocclusion. For the first time, fusion of teeth and hyperdontia of permanent upper teeth were seen. In addition, structural and morphological dental changes were noted. These findings expand the clinical spectrum of the syndrome. ( info) |
3/585. Treatment of an impacted dilacerated maxillary central incisor. Impacted incisor With Dilaceration refers to a dental deformity characterized by an angulation between crown and root causing noneruption of the incisor. Surgical extraction used to be the first choice in treating the severely dilacerated incisor. In this article, a horizontally impacted and dilacerated maxillary central incisor was diagnosed radiographically. By combining two stages of the crown exposure surgery with light force orthodontic traction, the impacted dilacerated incisor was successfully moved into proper position. However, long-term monitoring of the stability and periodontal health is critical after orthodontic traction. ( info) |
4/585. Taurodontism in association with supernumerary teeth. The dental, radiological, genetic and dermatoglyphic findings of an additional patient with taurodontism in association with supernumerary teeth were presented and the findings of the patient were compared with those in the literature. ( info) |
5/585. 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. ( info) |
6/585. Robinow (fetal face) syndrome: report of a boy with dominant type and an infant with recessive type. The cases of two patients with Robinow fetal face syndrome, an 11-year-old Thai boy and a newborn Caucasian girl, are described. The Thai boy had the characteristics typical of the dominant type of the syndrome with a few newly recognized signs, including communicating hydrocephalus, underdeveloped sinuses, short roots of the teeth, narrow and thick-floored pulp chambers, hypoplastic nipples, absent middle phalanges of the second to fifth toes, cone-shaped epiphyses of the second and fourth fingers and fifth toes, single creases of the fourth and fifth fingers, clinodactyly of the third fingers, dysmorphic umbilicus, and shawl scrotum. The girl had anomalies typical of the recessive type of the syndrome. She also had capillary hemangioma at the tip of her nose and hypoplastic fourth metatarsal bones, which are the newly recognized features of the recessive type. Infrequently reported clinical manifestations of the syndrome are discussed. ( info) |
7/585. A Rapp-Hodgkin like syndrome in three sibs: clinical, dental and dermatoglyphic study. Rapp-Hodgkin ectodermal dysplasia is an autosomal dominant disorder characterized by distinctive craniofacies, cleft lip or palate, oligodontia or anodontia, hypoplasia of the nails, and a decrease in or absence of the sweat glands and hair follicles. We have identified a family in which three children display clinical features similar to Rapp-Hodgkin syndrome. The father and two other sisters of the patient had normal facial features, but had short stature and had dental anomalies, the latter suggestive of ectodermal dysplasia. The overall clinical, dental, and dermatoglyphic findings of these patients are discussed in relation to reports of families with Rapp-Hodgkin syndrome. ( info) |
8/585. Single central maxillary incisor with nasal pyriform aperture stenosis--CT diagnosis prior to tooth eruption. Two children with nasal pyriform aperture stenosis had the diagnosis of single central maxillary incisor made with CT scanning prior to tooth eruption and the clinical appreciation of this finding. The surgical and clinical implications of this diagnosis will be presented. ( info) |
9/585. Primary failure of tooth eruption: a unique case. Primary failure of tooth eruption rarely occurs. This case represents a rare clinical situation and appears to reflect a generalized disturbance in the eruptive process, inasmuch as (1) deciduous and permanent dentition are affected, (2) incisors, molars, and premolars are involved in all quadrants, (3) skeletal and craniofacial growth are within normal limits, and (4) no systemic/genetic anomalies were detected. This is the first such case reported in the literature; diagnosis and management are discussed. ( info) |
| Mutations involving the transcription factor CBFA1 cause cleidocranial dysplasia (CCD) in man. Recently, a mouse model of CCD has been generated (Cbfal /-) [Komori et al., 1997], and disturbances of osteoclast differentiation have been documented. It has been shown that these animals exhibit hypoplastic clavicles and nasal bones, and retarded ossification of parietal, interparietal, and supraoccipital bones. humans with CCD show all these features, including severely retarded ossification of the cranial base, strongly suggesting that both intramembranous ossification and endochondral ossification are affected. In addition, CCD patients have multiple supernumerary teeth and delayed tooth eruption. The present report presents 3D reconstructions of computerised tomography (CT) scans of the craniofacial region of a CCD boy examined at both 1 and 7 years of age. The anomalies in craniofacial skeleton and teeth are analysed and compared to the findings of our previous clinical studies and to the findings in the animal model. Based on the available information, we suggest that osteoblast, osteoclast, and dentinoclast differentiation may be disturbed in CCD. ( info) |