Ramon syndrome with diabetes mellitus and vascular skin lesions in two sibs

Pridmore, Clair; Baraitser, M; Leonard, Jane

doi:10.1097/00019605-199201000-00005

Cited by 8 publications

(8 citation statements)

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“…The association of cherubism with gingival fibromatosis, epilepsy, mental retardation, stunted growth, and hypertrichosis was first described by Ramon et al [8], in 1967, and subsequently by Pina-Neto et al [9], in 1986, in 4 individuals in a family under the term Ramon syndrome. Two other examples were also reported by Primdore et al [10], in 1992. We report a case of Ramon syndrome.…”

Section: Introductionsupporting

confidence: 66%

“…Thus, the presence of cherubism in combination with the features mentioned distinguish Ramon syndrome from the rest. In the present case, features such as epilepsy, GF, mental retardation in the setting OMIM online mendelian inheritance in man of cherubism may well relate to Ramon syndrome though hypertrichosis was not a feature [8][9][10]. Review of literature revealed that cherubism have been reported in association with gingival fibromatosis [5], psychomotor retardation and gingival fibromatosis [24], neurofibromatosis and multiple non-ossifying fibromas of the femoral bone [25,26], and Fragile X syndrome [27].…”

Section: Discussionmentioning

confidence: 58%

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Cherubism Combined with Epilepsy, Mental Retardation and Gingival Fibromatosis (Ramon Syndrome): A Case Report

Suhanya

Aggarwal

Mohideen

et al. 2009

Head and Neck Pathol

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Cherubism is an inherited, autosomal dominant disorder that characteristically affects the jaws of children. The disease typically manifest as a bilateral swelling with associated submandibular lymph node enlargements and usually regresses as age advances. The disease is microscopically indistinguishable from other giant cell lesions and is essentially a clinical diagnosis. The association of cherubism with gingival fibromatosis, epilepsy, mental retardation, stunted growth, and hypertrichosis is referred as Ramon syndrome. We report a case of Ramon syndrome in an 8 year old girl.

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Section: Introductionsupporting

confidence: 66%

Section: Discussionmentioning

confidence: 58%

Cherubism Combined with Epilepsy, Mental Retardation and Gingival Fibromatosis (Ramon Syndrome): A Case Report

Suhanya

Aggarwal

Mohideen

et al. 2009

Head and Neck Pathol

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“…Since its first description by Ramon et al in 1967, 1 2 other families have been described. [2][3][4] Here, we report on a new family with Ramon…”

Section: Introductionmentioning

confidence: 94%

“…Ramon syndrome (OMIM 266270) is a rare entity characterized by the presence of cherubism, gingival fibromatosis, epilepsy, intellectual disability, hypertrichosis, and short stature. Since its first description by Ramon et al in 1967, 2 other families have been described …”

Section: Introductionmentioning

confidence: 99%

Homozygous mutation in ELMO2 may cause Ramon syndrome

et al. 2018

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We report on a girl, born to first cousin Lebanese parents, with intellectual disability, seizures, repeated gingivorrhagia, enlarged lower and upper jaws, overgrowth of the gums, high arched and narrow palate, crowded teeth, hirsutism of the back, large abdomen and a small umbilical hernia. Cysts of the mandible, fibrous dysplasia of bones, and enlarged adenoids causing around 60% narrowing of the nasopharyngeal airways were noted at radiographic examination. Her brother presented with the same features in addition to a short stature, an ostium secundum, and more pronounced intellectual disability. He died at the age of 8 years from a severe pulmonary infection and repeated bleeding episodes. A clinical diagnosis of Ramon syndrome was made. Whole exome sequencing studies performed on the family revealed the presence of a novel homozygous missense mutation in ELMO2 gene, p.I606S in the affected individuals. Loss of function mutations in ELMO2 have been recently described in another clinically distinct condition: primary intraosseous vascular malformation or intraosseous hemangioma, called VMOS. Review of the literature and differential diagnoses are discussed.

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“…We report the clinical ®ndings at follow-up in two siblings originally described by Pridmore et al [1992]. Both had anomalous pale optic discs and retinal abnormalities including pigmentary changes in patient 1.…”

Section: Introductionmentioning

confidence: 94%

Axenfeld anomaly and retinal changes in Ramon syndrome: Follow-up of two sibs

Parkin

Law

2001

Am. J. Med. Genet.

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Two siblings with Ramon syndrome (MIM 266270) were found at follow-up to have anterior and posterior segment ocular abnormalities, including Axenfeld anomaly, retinopathy, and pale anomalous optic discs. These features were not described in the original report on this family. A recent report of another family with Ramon syndrome describes pigmentary retinopathy and optic disc pallor. It may be concluded that ocular abnormalities are another feature of this syndrome with anterior chamber abnormalities present at birth and retinopathy developing later.

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Ramon syndrome with diabetes mellitus and vascular skin lesions in two sibs

Cited by 8 publications

References 0 publications

Cherubism Combined with Epilepsy, Mental Retardation and Gingival Fibromatosis (Ramon Syndrome): A Case Report

Cherubism Combined with Epilepsy, Mental Retardation and Gingival Fibromatosis (Ramon Syndrome): A Case Report

Homozygous mutation in ELMO2 may cause Ramon syndrome

Axenfeld anomaly and retinal changes in Ramon syndrome: Follow-up of two sibs

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