1/78. 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. ( info) |
2/78. Ischio-spinal dysostosis: a previously unrecognised combination of malformations. BACKGROUND: Ischial hypoplasia is an extremely rare malformation, both as an isolated anomaly and as a syndromic constituent. OBJECTIVE: To elucidate the clinical and radiological characteristics in five patients with the combination of ischial hypoplasia and spinal malformations. MATERIALS AND methods: The clinical records and radiographs of two females and three males, ranging in age from 3 months to 38 years, were evaluated. RESULTS: Ossification defects of the ischial rami were symmetrical and total in four patients, whereas the right ischial ramus was partly ossified in the other patient. All patients possessed multiple segmental defects of the spine, with rib anomalies of varying severity. One patient characteristically showed multiple rib gaps, resulting in respiratory distress. Severe anomalies of the cervical spine were evident in two patients. Four patients exhibited lumbosacral hypoplasia, which ultimately led to cauda equina syndrome in three older patients. One patient had mild facial dysmorphism and another had a diversity of anomalies, including ichthyosiform skin changes. Four patients were sporadic cases, whereas the other patient was born to consanguineous parents. CONCLUSIONS: The combination of anomalies in these patients constitutes a recognisable pattern of malformations but may represent a heterogeneous group of disorders. ( 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) |
| cleidocranial dysplasia (CCD), an uncommon disorder involving membranous bones, is rarely lethal in early life. The calvaria is defective and wormian bones are present. Abnormalities of the clavicles vary in severity from a minor unilateral defect to bilateral absence. This report concerns pre- and postmortem anatomical and radiological findings in a 15-day-old female neonate with CCD. Her postnatal course was characterized by seizures and recognition of hydrocephalus during the first day of life. The calvaria was hypoplastic with numerous wormian bones. A pseudofracture of the right clavicle was present. hydrocephalus was present in the brachycephalic brain which had a severely thinned cerebral cortex. hemosiderin in the ventricular lining and marked subependymal gliosis were interpreted as evidence of old intraventricular hemorrhage that had occurred in utero. A CCD-related condition, Yunis-Varon syndrome (YVS), is noted for early lethality and for developmental and secondary abnormalities of the central nervous system. The present case only partially matches the phenotype of YVS and might represent a part of a spectrum of phenotypic variants ranging from viable CCD to lethal YVS. ( info) |
5/78. cleidocranial dysplasia: modern concepts of treatment and a report of an orthodontic resistant case requiring a restorative solution. A case is presented of a young boy with cleidocranial dysplasia, whose multiple supernumerary teeth prevented the eruption of most of his permanent teeth. His maxillary incisor teeth failed to erupt following removal of anterior supernumerary elements and orthodontic traction. Lack of abutment teeth and a difficult maxillary base made prosthetic treatment almost impossible. A horseshoe acrylic denture retained by milled crowns bonded to the deciduous canines and a maxillary first molar proved a very successful restoration. The problems of treating this group of patients are discussed. ( info) |
| A woman was referred in the first trimester of her third pregnancy because of a family history of cleidocranial dysplasia. An ultrasound examination at 14 weeks 4 days revealed a fetus with appropriate biometric measurements. However, the clavicles were noted to be hypoplastic and the cranium appeared less well ossified than expected for gestational age, suggesting the diagnosis of cleidocranial dysplasia. On subsequent examination at 21 weeks, the findings were essentially unchanged. Induced vaginal delivery owing to decreased amniotic fluid volume occurred at 37 weeks, and a female weighing 3200 g was delivered. The infant had clinical and X-ray signs of cleidocranial dysplasia. ( info) |
7/78. Pyknodysostosis--a report of two cases with a brief review of the literature. Pyknodysostosis is a rare sclerosing bone disorder that has an autosomal dominant trait. It is characterized by short stature, brachycephaly, short and stubby fingers, open cranial sutures and fontanelle, and diffuse osteosclerosis, where multiple fractures of long bones and osteomyelitis of the jaw are frequent complications. We present a report of two cases of pyknodysostosis with evidence of long bone fractures and chronic suppurative osteomyelitis of the jaws in one of the cases. Some of the specific oral and radiological findings that are consistent with pyknodysostosis are reported, along with a brief review of the literature. ( info) |
8/78. A novel missense mutation of the CBFA1 gene in a family with cleidocranial dysplasia (CCD) and variable expressivity. The aim of this study was to analyze the CBFA1 gene in a phenotypically variable family with autosomal dominant cleidocranial dysplasia (CCD). Five members of a family with CCD were characterized clinically. x-rays and photographs of the two clinically affected family members were taken. The genotype of all five affected family members was determined with the use of single strand conformation polymorphism (SSCP) and direct sequencing. A point-mutation in exon 2 (R148G) was detected in a patient with the full-blown clinical phenotype. His son, demonstrating the same mutation, showed only the dental CCD characteristics. No mutation could be found in the three clinically healthy family members. To conclude, a missense mutation in the CBFA1 gene was detected in a family with variably expressed CCD syndrome. A detailed clinical examination is necessary to detect minimally affected gene mutation carriers. ( info) |
| cleidocranial dysplasia (CCD), which is caused by mutations of the core binding factor alpha 1 (CBFA1)/runt-related gene 2 (Runx2), is an autosomal, dominantly inherited disorder of high penetrance affecting skeletal ossification and tooth development. Recently, we found a novel frameshift mutation 383-T-insertion (S128F) in exon 3 in the CBFA1 gene of a Japanese classic CCD patient. We describe our detailed investigation of the patient with CCD associated with the CBFA1 mutation. The patient showed the characteristic expression of CCD, such as dysplasia of the clavicles, patent fontanelles, short stature, impacted supernumerary teeth, and delayed eruption of the permanent teeth. In addition to these characteristics, orthopantomography delayed ossification of the mandibular symphysis and a three-dimensional computed tomograph (3D-CT) analysis showed hypoplasia of the zygomatic arch. Furthermore, the acellular cementum of an impacted supernumerary tooth was absent in this patient. Thus, the CBFA1 mutation was critical for the pathogenesis of CCD in this patient. ( info) |
10/78. Identification of a novel frameshift mutation (383insT) in the RUNX2 (PEBP2 alpha/CBFA1/AML3) gene in a Japanese patient with cleidocranial dysplasia. cleidocranial dysplasia (CCD) is an autosomal dominant disorder due to mutations in runt-related gene 2 (RUNX2)/polyomavirus enhancer-binding protein 2alphaA (PEBP2alphaA)/core-binding factor A1 (CBFA1)/acute myeloid leukemia 3 (AML3). To investigate the RUNX2 mutations in a Japanese patient with classic CCD, we analyzed the RUNX2 gene using polymerase chain reaction (PCR)-single-strand conformation polymorphism and PCR-restriction fragment length polymorphism. The patient had hypoplasia of the clavicles, patent fontanelles, short stature, supernumerary teeth, and retention of deciduous dentition. We identified a 1-bp insertion (383insT) at codon 128 of the RUNX2 gene. The 383T insertion affects the conserved residue in the runt domain and results in premature termination in the runt domain. ( info) |