Cases reported • Cherubism

11/28. noonan syndrome with giant cell lesions.

noonan syndrome is characterised by short stature, unusual facies, congenital heart disease, chest deformity and mild mental retardation. It may be sporadic or inherited as an autosomal dominant trait and occurs between one in 1000-2500. cherubism is a giant cell lesion of the jaws thought to be transmitted as an autosomal dominant trait. It is usually recognised by age two to four years, follows a variable course, and is not known to be related to other genetic disorders. The purpose of this article is to report a case of multiple giant cell lesions of the mandible that occurred in a patient with phenotypic features of noonan syndrome. The emerging relationship between these cherubism-like findings and noonan syndrome will be discussed.

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12/28. cherubism.

cherubism is a rare inherited fibro-osseous disorder that affects the jaws, producing a characteristic facial appearance. patients are normal at birth; however, by their second or third year of life they develop a fullness of the lower one half of their face and retraction of the lower eyelids that exposes a rim of sclera below the iris. The facial appearance is similar to a Renaissance cherub with its gaze toward heaven. A case of cherubism in a 19-year-old male, complicated by severe orbital compression resulting in diplopia, is presented. The patient was diagnosed at three years of age when he developed the characteristic cherub facies and severe dental anomalies that required surgical correction. At age 14, he underwent facial contouring surgery of his jaws. Orbital compression later developed due to lesions growing in the floor of his orbits. This was corrected by way of a subciliary approach to the orbit. The patient's facial appearance and visual function were markedly improved by the surgery. A review of the literature detailing this rare disease is discussed.

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13/28. Aggressive behaviour of cherubism in a teenager: 4-years of clinical follow-up associated with radiographic and histological features.

cherubism is a rare hereditary fibro-osseous childhood disease characterized by bone degradation and fibrous tissue replacement at the angles of the mandible and at the tuberosity areas of the maxilla that leads to prominence of the lower face and an appearance reminiscent of the cherub's portrayal in Renaissance art. This disease has an autosomal dominant hereditary characteristic. The purpose of this report is to analyse laboratory tests, clinicopathological and radiographic features of cherubism and its intraoral manifestations in a patient during 4-years of follow-up, correlating the features observed in this case with those of the literature. Also discussed is the atypical and aggressive behaviour of this case during puberty.

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14/28. A prosthetic treatment approach for a cherubism patient: A clinical report.

cherubism is an early childhood disease that primarily involves the mandible and consists of painless mandibular enlargement with or without maxillary involvement and progresses rapidly over the course of several years. This clinical report describes the fabrication of maxillary fixed partial dentures and a mandibular overdenture for a 21-year-old man with cherubism.

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15/28. A novel mutation in the SH3BP2 gene causes cherubism: case report.

BACKGROUND: cherubism is a rare hereditary multi-cystic disease of the jaws, characterized by its typical appearance in early childhood, and stabilization and remission after puberty. It is genetically transmitted in an autosomal dominant fashion and the gene coding for SH3-binding protein 2 (SH3BP2) may be involved. CASE PRESENTATION: We investigated a family consisting of 21 members with 3 female affected individuals with cherubism from Northern china. Of these 21 family members, 17 were recruited for the genetic analysis. We conducted the direct sequence analysis of the SH3BP2 gene among these 17 family members. A disease-causing mutation was identified in exon 9 of the gene. It was an A1517G base change, which leads to a D419G amino acid substitution. CONCLUSION: To our knowledge, the A1517G mutation has not been reported previously in cherubism. This finding is novel.

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16/28. Fibrous dysplasia and cherubism as an hereditary familial disease. Follow-up of four generations.

Five cases of dysplasia of the jaws in one family which has been under our observation since 1970 are reported. The disease appeared as a mixed display of jaw lesions, in some members as fibrous dysplasia and in others as cherubism. We were able to trace the disorder through an unbroken line of four generations, and thus to demonstrate autosomal dominant inheritance. cytogenetic analysis performed on three members of this family revealed a significantly increased rate of chromosomal breakage.

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17/28. The noonan syndrome/cherubism association.

noonan syndrome is characterized by short stature, unusual facies, congenital heart disease, chest deformity, mild mental retardation, and cryptorchidism in males. It may be sporadic or inherited as an autosomal dominant trait and occurs between 1 in 1000 and 1 in 2500 live births. cherubism is a giant cell lesion of the jaws thought to be transmitted as an autosomal dominant trait. It is usually recognized by age 7 years, follows a variable course, and is not known to be related to other genetic disorders. We herein report on four patients with noonan syndrome, all of whom had cherubism. Two other probable cases are cited in the literature for a total of six known cases.

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18/28. cherubism. Histo-enzymological and ultrastructural study.

The 3 cases of cherubism reported affected the mandible. They were all studied by means of histo-enzymological and ultrastructural methods. This study demonstrated 3 stages in the morphological evolution of the disease, corroborated by clinical data. The 1st stage was characterized by an osteolytic granuloma with round, fusiform and giant-cells and a high level of activity of acid phosphatase. The 2nd stage showed repair with proliferation of highly active fibroblasts (increase in activity of leucine aminopeptidase). The 3rd stage exhibited an osteogenesis with high activity of alkaline phosphatase and ATPase. The pathogenesis of this rare osteodysplasia is discussed.

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19/28. cherubism: report of three cases.

cherubism is a very rare, inherited autosomal-dominant disease, affecting mostly the mandible. Usually the chief complaint on examination is painless bilateral swelling involving the angles of the mandible. On palpation, the lesions are hard and the jaw is expanded; often there is displacement of erupted teeth.

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20/28. The computed tomographic appearances of cherubism.

The computed tomographic (CT) aspects of six cases of cherubism are described. Through its optimal representation of the lesions, CT enabled certain characteristics of this disease to be substantiated, namely, limitation of the process to the bones of the jaw and primarily superficial development of the mandibular lesions, coupled with an unusual mandibular condylar impairment. Moreover, the composition of this series permitted investigation of the condition in its several stages of progression.

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