11/52. hearing loss as a presenting symptom of cleidocranial dysplasia.OBJECTIVES: To report two cases of cleidocranial dysplasia in which hearing loss was the first presenting symptom. STUDY DESIGN: Retrospective case review. patients: Two cases of cleidocranial dysplasia, a rare autosomal dominant skeletal dysplasia affecting both membranous and enchondral bone formation. SETTING: Tertiary referral center. INTERVENTIONS: Clinical, audiometric, and imaging diagnostic procedures. CONCLUSION: With this report, we want to illustrate the possibility of a rare genetic disorder as the underlying cause of hearing loss. We also want to emphasize the need for a multidisciplinary approach and evaluation of unexplained hearing loss to obtain a correct diagnosis, which is important for genetic counseling and management of the patient and his or her family.- - - - - - - - - - ranking = 1keywords = dysplasia (Clic here for more details about this article) |
12/52. A case of a Japanese patient with cleidocranial dysplasia possessing a mutation of CBFA1 gene.cleidocranial dysplasia (CCD) is an autosomal dominant human bone disease characterized by hypoplastic or aplastic clavicles, wide cranial sutures, supernumerary teeth, short stature, and other skeletal disorders. Recently, various mutations of the core binding factor (CBFA1) gene have been detected in CCD patients. The CBFA1 gene is a member of the runt family of transcription factors.We experienced one Japanese case of CCD with open sutures, hypoplasia of clavicles and brachydactyly, combined with atlant-axis dislocation. We performed the sequence analysis of the CBFA1 gene and detected a missense mutation of R225W in exon 3.- - - - - - - - - - ranking = 0.71428571428571keywords = dysplasia (Clic here for more details about this article) |
13/52. New mutations in the CBFA1 gene in two Mexican patients with cleidocranial dysplasia.cleidocranial dysplasia (CCD) is an autosomal dominant skeletal disorder exhibiting a wide clinical spectrum ranging from minimal anomalies to classic CCD. Mutations scattered throughout the entire CBFA1 gene have been related to this disorder. However, it seems that most of them affect the highly conserved Runt domain, abolishing the dna-binding ability of this transcription factor. Moreover, no systematic effect has been found to relate the type of mutation to the severity of the clinical features. In this paper, we studied two unrelated patients with classic CCD. dna analysis revealed two novel mutations and three undescribed polymorphisms. One of the substitutions was a missense mutation in the Q/A domain leading to the replacement of a polar residue by a nonpolar one (158 A --> T [Q53L]). The second was an uncommon heterozygous stop codon mutation (1565 G --> C [X522S]) which theoretically results in a longer protein with 23 additional amino acids. This is the first report of this type of mutation in CBFA1. We discuss the possible consequences of these mutant sequences, although no phenotype-genotype correlation could be established. Our findings expand the existing number of allelic variants in this pathology.- - - - - - - - - - ranking = 0.71428571428571keywords = dysplasia (Clic here for more details about this article) |
14/52. Neuropathologic and MR imaging correlation in a neonatal case of cerebellar cortical dysplasia.Little documentation of the correlation between MR imaging findings in isolated cerebellar cortical dysplasia (CCD) and its neuropathologic characteristics exists in the recent literature. We documented a postmortem neuropathologic study of a clinically and radiologically well-documented case of CCD in a neonate with severe hypotonia and status epilepticus. MR imaging revealed a global vermian hypoplasia with marked cortical dysplasia. CCD was associated with a voluminous heterotopic mass. The postmortem neuropathologic study confirmed vermian hypoplasia and CCD, which consisted of right cerebellar cortical polymicrogyria with subcortical heterotopia. CCD is a pathologic entity that could be well diagnosed with MR imaging even in the neonatal period.- - - - - - - - - - ranking = 0.85714285714286keywords = dysplasia (Clic here for more details about this article) |
15/52. Atypical expression of cleidocranial dysplasia: clinical and molecular-genetic analysis.cleidocranial dysplasia (CCD) and the rubinstein-taybi syndrome (RTS) are two rare congenital syndromes that have many clinical signs in common. We present an 18-year-old-patient with untypical CCD expression who was misdiagnosed with RTS at the age of 2 years. An extensive craniofacial examination was carried out with respect to morphological and dental aspects. The molecular-genetic analysis of two underlying genes (CBFA1 and CBP) for CCD and RTS was performed using SSCP, direct sequencing and FISH. While the clinical examination showed uncharacteristic CCD symptoms with some findings common for RTS, the molecular-genetic analysis revealed a missense mutation in the CBFA1 gene, which is considered to be the etiological factor for CCD. Our findings with this patient presented clear evidence for the wide morphologic variety that can be related to a certain gene such as CBFA1. The diagnosis of rare diseases is currently based on the clinical phenomenology of small groups or single cases. The use of molecular-genetic biology extends the horizon of diagnostic and scientific possibilities. In this patient, it allowed us to compare the clinically diagnosis to molecular-genetic data. We conclude that molecular-genetic analysis may be a helpful tool in the differential diagnosis of many congenital diseases such as CCD and RTS.- - - - - - - - - - ranking = 0.71428571428571keywords = dysplasia (Clic here for more details about this article) |
16/52. cleidocranial dysplasia with decreased bone density and biochemical findings of hypophosphatasia.cleidocranial dysplasia (CCD; MIM 119600) is an autosomal dominant skeletal dysplasia characterised by hypoplastic clavicles, patent fontanelles, short stature, tooth anomalies and other variable skeletal changes. Different mutations of the RUNX2/CBFA1 gene (MIM 600211) have been detected in patients with CCD. We investigated a mother and daughter with features of CCD presenting with reduced plasma alkaline phosphatase activity, increased urinary phosphoethanolamine excretion and decreased bone density. The latter findings were suggestive of hypophophatasia but mutation analysis showed no mutation in the tissue-nonspecific alkaline phosphatase gene (TNSALP; MIM 171760). However, a heterozygous mutation (Arg169Pro caused by nucleotide change 506G > C) was detected in the RUNX2 gene. Metabolic alterations gradually improved in both mother and daughter but bone-specific alkaline phosphatase remained low (less than 30% of normal) and mild phosphoethanolaminuria persisted. Recent studies in the Cbfa1 knock-out mouse showed decreased expression of alkaline phosphatase in differentiating bone. CONCLUSION: we suggest that the observed metabolic alterations are secondary to the RUNX2 gene mutation affecting early bone maturation and turnover. This is the first description of biochemical findings of hypophosphatasia in patients with cleidocranial dysplasia.- - - - - - - - - - ranking = 1keywords = dysplasia (Clic here for more details about this article) |
17/52. Severe cleidocranial dysplasia can mimic hypophosphatasia.cleidocranial dysplasia (OMIM 119600) is a skeletal dysplasia caused by mutations in the bone/cartilage specific osteoblast transcription factor RUNX2 gene. It is characterised by macrocephaly with persistently open sutures, absent or hypoplastic clavicles, dental anomalies, and delayed ossification of the pubic bones. A few patients have been reported with recurrent fractures or osteoporosis but these are not considered features of the disease. We report a patient with classical findings of cleidocranial dysplasia: markedly hypoplastic clavicles, delayed ossification of the pubic rami, multiple pseudoepiphyses of the metacarpals, and dental anomalies including delayed eruption of permanent dentition and multiple supernumerary teeth. The patient also had radiographic and biochemical features of hypophosphatasia (OMIM 241500, 146300) and was initially diagnosed with this condition. serum alkaline phosphatase activity has been consistently reduced and specific enzyme substrates, phosphoethanolamine and pyridoxal-5'-phosphate, have been elevated. However, no mutations were found on direct sequencing of the tissue-nonspecific alkaline phosphatase ( TNSALP) gene using a protocol that detects up to 94% of all mutations causing hypophosphatasia. CONCLUSION: We propose that a subset of patients with cleidocranial dysplasia have features of secondary hypophosphatasia due to decreased expression of the tissue-nonspecific alkaline phosphatase gene.- - - - - - - - - - ranking = 1.1428571428571keywords = dysplasia (Clic here for more details about this article) |
18/52. Surgical management of a patient with cleidocranial dysplasia: a case report.cleidocranial dysplasia is associated with the formation of many supernumerary teeth which usually fail to erupt. In later life, cysts may form around the embedded teeth. The following report describes the management of such a case with a method which promotes satisfactory prosthodontic rehabilitation.- - - - - - - - - - ranking = 0.71428571428571keywords = dysplasia (Clic here for more details about this article) |
19/52. prenatal diagnosis of a cleidocranial dysplasia-like phenotype associated with a de novo balanced t(2q;6q)(q36;q16) translocation.cleidocranial dysplasia (CCD) is a congenital disorder of bone development characterized by persistently open or delayed closure of cranial sutures and wormian bones, hypoplastic and/or aplastic clavicles, wide pubic symphysis, dental anomalies and short stature. The condition is inherited as an autosomal-dominant trait and the human CBFA1 gene has been identified as the CCD gene. We describe a prenatal form of the skeletal disorder that included clavicular hypoplasia, absence of ossification of the cranial parietal bones and very poor ossification of the frontal and pubic bones. growth restriction affecting only the long bones was also noted. The fetal karyotype revealed an apparently de novo balanced t(2q;6q)(q36;q16) translocation. This particular form of skeletal disorder associated with the absence of family history and an apparently de novo balanced translocation led the parents to opt for termination of the pregnancy.- - - - - - - - - - ranking = 0.71428571428571keywords = dysplasia (Clic here for more details about this article) |
20/52. Treatment of a patient with cleidocranial dysplasia using osseointegrated implants: a patient report.This patient report describes the treatment of a 42-year-old woman with cleidocranial dysplasia. Endosseous implants were used to restore the mandibular and maxillary arches with fixed prostheses. Six implants were placed in the mandible and immediately loaded with an acrylic resin fixed prosthesis. In the maxillary arch, 10 implants were submerged for 4 months prior to functional loading. A transitional denture was relined and placed in the maxilla 10 days after implant placement. Three months later, a definitive mandibular prosthesis was fabricated. The definitive maxillary restoration was delivered 6 months after surgery. The most recent follow-up, 6 months after delivery, confirmed a satisfactory treatment result to date.- - - - - - - - - - ranking = 0.71428571428571keywords = dysplasia (Clic here for more details about this article) |
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