Syndrome of gingival hyperplasia, hirsutism, and convulsions

Snyder, C. Harrison

doi:10.1016/s0022-3476(65)80413-9

Cited by 31 publications

(24 citation statements)

References 2 publications

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“…This condition is similar to one described by Anavi et al [1989], but also overlaps various syndromes characterized by gingival hypertrophy [Zimmermann, 1928;Lä-wen, 1929;Laband et al, 1964;Alavandar, 1965;Snyder, 1965;Witkop, 1971;Winter and Simpkiss, 1974;Chodirker et al, 1986;de Pina Neto et al, 1988;Kiss, 1990;Takagi et al, 1991;Pfeiffer et al, 1992;Chadwick et al, 1994;Lacombe et al, 1994;Pavone et al, 1996;Pavone et al, 1997]. Among these are autosomal recessive and dominant disorders.…”

Section: Introductionsupporting

confidence: 79%

“…Numerous syndromes are described characterized by gingival hypertrophy and mental retardation [Zimmermann, 1928;Lä wen, 1929;Laband et al, 1964;Snyder, 1965;Houston and Shotts, 1966;Winter and Simpkiss, 1974;Cross et al, 1967;de Pina Neto, 1986, 1988Chodirker et al, 1986;Anavi et al, 1989;Kiss , 1990;Takagi et al, 1991;Pfeiffer et al, 1992;Chadwick et al, 1994;Lacombe et al, 1994;Pavone et al, 1996Pavone et al, , 1997.…”

Section: Discussionmentioning

confidence: 99%

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Syndrome of gingival hypertrophy, hirsutism, mental retardation and brachymetacarpia in two sisters: Specific entity or variant of a described condition?

et al. 2000

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Two sisters born to consanguineous Lebanese parents had mental retardation and epilepsy, brachymetacarpalia, hirsutism, bulbous soft nose, thick floppy ears with abnormal configuration and gingival hypertrophy. One girl presented additionally with tetralogy of Fallot and the other with congenital hypothyroidism and bilateral ureteral stenosis. These manifestations resemble the syndrome of hypertrichosis-gingival fibromatosis-mental retardation and seizures of Anavi et al. [1989: Dev Med Child Neurol 31:538-542] but our two girls additionally have brachymetacarpia. The inheritance seems to be autosomal recessive. These two sisters may represent a hitherto undescribed syndrome. We discuss the findings in our patients in relation to the literature.

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Section: Introductionsupporting

confidence: 79%

Section: Discussionmentioning

confidence: 99%

Syndrome of gingival hypertrophy, hirsutism, mental retardation and brachymetacarpia in two sisters: Specific entity or variant of a described condition?

et al. 2000

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“…Others have reported diabetes mellitus, vascular skin lesions and ocular abnormalities as part of Ramon syndrome [12,21,22]. Interestingly, the combination of epilepsy, mental retardation, hypertrichosis and GF are defined as idiopathic or HGF [8,18,19,[28][29][30][31]. Other phenotypic expressions like giant cell tumor and osteofibrosis are also known to occur in HGF [19].…”

Section: Discussionmentioning

confidence: 99%

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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“…Two patients with the GH of Cantu syndrome presented with GO but had additional features and no seizures . Following the original observation of , of a brother-sister pair born to consanguineous parents, two additional patients have been described, sharing clinical characteristics, including central nervous system anomalies and neurological features (Snyder, 1965;Kiss, 1990). Central nervous system anomalies were not found in our patient; however, we believe that our patient has some resemblance to Snyder's case 2, although the absence of ataxia appears as a major distinguishing feature (Table 1).…”

Section: Discussionmentioning

confidence: 99%

Gingival overgrowth, congenital generalized hypertrichosis, mental retardation and epilepsy: case report and overview

Douzgou¹,

Mingarelli

Dallapiccola³

2009

Clinical Dysmorphology

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We report on a patient with congenital generalized hypertrichosis, mental retardation, tonic-clonic seizures with onset during the first year of life and gingival overgrowth, unrelated to antiepileptic treatment. This phenotype represents a unique combination of features, bridging the variable association of gingival overgrowth, generalized hypertrichosis, mental retardation or epilepsy. This may occur in combination with nail and/or digital anomalies, as in Zimmermann-Laband syndrome, and the broader phenotypes of the Anavi, Göhlich-Ratmann and Ramon syndromes. On the basis of the clinical overlap between our patient and these disorders inherited either as autosomal dominant or recessive traits and unknown molecular defects, a recurrence risk of one in four was considered appropriate.

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Syndrome of gingival hyperplasia, hirsutism, and convulsions

Cited by 31 publications

References 2 publications

Syndrome of gingival hypertrophy, hirsutism, mental retardation and brachymetacarpia in two sisters: Specific entity or variant of a described condition?

Syndrome of gingival hypertrophy, hirsutism, mental retardation and brachymetacarpia in two sisters: Specific entity or variant of a described condition?

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

Gingival overgrowth, congenital generalized hypertrichosis, mental retardation and epilepsy: case report and overview

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