Gingival overgrowth, congenital generalized hypertrichosis, mental retardation and epilepsy: case report and overview.
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.
Douzgou
Sofia
S
IRCCS-CSS, San Giovanni Rotondo and CSS-Mendel Institute, Sapienza University, Rome, Italy.
Mingarelli
Rita
R
Dallapiccola
Bruno
B
D000328:Adult; D002648:Child; D002675:Child, Preschool; D004569:Electroencephalography; D004827:Epilepsy / Q000150:complications*; D005260:Female; D005881:Gingiva / Q000002:abnormalities*; D006801:Humans; D006983:Hypertrichosis / Q000150:complications* / Q000151:congenital*; D007223:Infant; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000150:complications*; D008297:Male; D011247:Pregnancy