Search results for "Fibrous dysplasia"
showing 10 items of 16 documents
The 2q37-deletion syndrome: an update of the clinical spectrum including overweight, brachydactyly and behavioural features in 14 new patients
2012
International audience; The 2q37 locus is one of the most commonly deleted subtelomeric regions. Such a deletion has been identified in >100 patients by telomeric fluorescence in situ hybridization (FISH) analysis and, less frequently, by array-based comparative genomic hybridization (array-CGH). A recognizable ‘2q37-deletion syndrome’ or Albright’s hereditary osteodystrophy-like syndrome has been previously described. To better map the deletion and further refine this deletional syndrome, we formed a collaboration with the Association of French Language Cytogeneticists to collect 14 new intellectually deficient patients with a distal or interstitial 2q37 deletion characterized by FISH and …
Management of fibro-osseous lesions of the craniofacial area: presentation of 19 cases and review of the literature
2013
Introduction: Fibro-osseous lesions constitute a rare benign type of pathology with a non-odontogenic lineage that affect the craniofacial area. According to Waldrom’s classification, these lesions are divided into: fibrous dysplasia (FD), cemento-ossifying fibroma (COF) and desmoplastic fibroma (DF). Material and Methods: A retrospective study was performed on patients diagnosed with fibro-osseous lesions of the craniofacial area at the Hospital Universitario La Fe, Valencia, during 1987-2009. A total of 19 cases were collected: 15 cases compatible with an FD diagnosis, 3 cases with a COF diagnosis and 1 case with a DF diagnosis. Results: In the differential diagnosis, entities having simi…
A new heterozygous mutation (L338N) in the human Gsalpha (GNAS1) gene as a cause for congenital hypothyroidism in Albright's hereditary osteodystroph…
2003
OBJECTIVE: To identify the molecular defect by which psychomotor retardation is caused in two brothers with congenital hypothyroidism who received adequate treatment with l-thyroxine. CASE REPORT: A six-year-old boy presented with psychomotor retardation and congenital primary hypothyroidism (CH). The patient had a normal blood thyrotrophin (TSH) level on neonatal screening, but low total serum thyroxine and triiodothyronine concentrations prompting thyroid hormone substitution shortly after birth. Nevertheless, psychomotor development was retarded and the patient underwent further investigation. Typical features of Albright's hereditary osteodystrophy (AHO) such as round face, obesity, and…
Clinicopathologic conference: Multiquadrant expansile fibro-osseous lesion in a juvenile
2011
This paper intends to present clinical, radiologic, and histopathologic features of a case of gigantiform cementoma manifesting in a 14-year-old boy, without any familial involvement. He has been followed for 3 years. Further cases from the literature have been reviewed that confirm a similar clinicopathologic picture. This is the first case report that describes "non-familial gigantiform cementoma" after the World Health Organisation's classification of 2005.
Pain Phenotypes in Rare Musculoskeletal and Neuromuscular Diseases
2020
For patients diagnosed with a rare musculoskeletal or neuromuscular disease, pain may transition from acute to chronic; the latter yielding additional challenges for both patients and care providers. We assessed the present understanding of pain across a set of ten rare, noninfectious, noncancerous disorders; Osteogenesis Imperfecta, Ehlers-Danlos Syndrome, Achondroplasia, Fibrodysplasia Ossificans Progressiva, Fibrous Dysplasia/McCune-Albright Syndrome, Complex Regional Pain Syndrome, Duchenne Muscular Dystrophy, Infantile- and Late-Onset Pompe disease, Charcot-Marie-Tooth Disease, and Amyotrophic Lateral Sclerosis. Through the integration of natural history, cross-sectional, retrospective…
Orthodontic treatment of patient with maxillofacial fibrous dysplasia : a case report
2019
Fibrous dysplasia is a benign skeletal disorder in which the normal bone and marrow are replaced by fibrous tissue and haphazardly distributed woven bone. The aim of this case report is to discuss the orthodontic treatment of a 13-year-old patient with fibrous dysplasia in the left maxilla. The patient had rotated maxillary second premolars, moderate crowding in both maxillary and mandibular arches with low maxillary frenal attachment. Orthodontic treatment was done with full fixed appliance and extraction of maxillary and mandibular third molars. Maxillary frenectomy and free gingival graft in mandibular anterior region were performed by a periodontist. The oral and maxillofacial surgery t…
Fibrous Dysplasia and Ossifying Fibroma-an advent in their diagnosis
2011
Objectives: Fibro-osseous lesions of the craniofacial complex comprise of a diverse, interesting and challenging group of conditions that pose difficulties in classification and treatment. The two most confused benign fibro-osseous lesions are fibrous dysplasia and ossifying fibroma. Sometimes, the classic clinical, radiologic or pathologic features of fibrous dysplasia or ossifying fibroma may not be evident, but overlapping features of both may be seen. The dilemma in diagnosis of these lesions rests in the bony trabeculae as well as in the fibrous stroma. Cases of fibrous dysplasia showing lamellated bony trabeculae and osteoblastic rimming have been reported which may confound diagnosis…
Fibro-osseous lesion of maxilla. Report of two cases in a family with review of literature
2011
Fibrous dysplasia is a disturbance of bone metabolism that is classified as a benign fibro-osseous lesion. Fibrous connective tissue containing abnormal bone, replaces normal bone. The etiology of fibrous dysplasia is unknown. The radiographic appearance of the irregularly shaped trabeculae aids in the differential diagnosis. Occurring most commonly in the second decade of life, the lesions of fibrous dysplasia can be surgically recontoured for esthetic or functional purposes once they become dormant.
CT and MR Imaging of Lesions of Skull Base and Cranial Vault
1989
The importance of CT in examinations of the skull base, including its role in the planning of operative or radiation therapy, has long been recognized (Liliequist and Forsell 1976; Bradac et al. 1977 a, b; 1978 a, b; Hammerschlag et al. 1977; Caille et al. 1977; Lohkamp et al. 1977; Huk and Schiefer 1978; Becker et al. 1978; Weinstein et al. 1978). In the present chapter we shall review the capabilities and limitations of this modality in the diagnosis of diseases involving the bony skull base and cranial vault. A more detailed discussion of specific tumor types may be found under the appropriate headings elsewhere in the book.
Cemento-ossifying fibroma of the mandible: presentation of a case and review of the literature
2011
Introduction: Cemento-ossifying fibroma is a benign fibro-osseous maxillary tumor belonging to the same category as fibrous dysplasia and cement-ossifying dysplasia. The aim of present study was report a case of cement-ossifying mandibular fibroma and offers a review of the literature on this disorder. Case report: A 41-year-old woman presented for conventional dental treatment. A control panoramic X-ray study revealed a rounded, mixed-type image in the mandible, located in the periapical zone from tooth 4.3 to 3.3. The patient presented no symptoms and had no medical history of interest. A sample of the lesion was obtained for histopathological study, which yielded a definitive diagnosis o…