Cherubism in a Brazilian Kindred

Abstract

SummaryA description is made of a Brazilian family of white ancestry in which five individuals presented the fibrous dysplasia of the jaws known as cherubism. The information obtained involves seven generations in a total of 75 individuals. 23 of these were examined by the authors and a report about a deceased person was confirmed by photograph. The affection in this family is probably conditioned by an autosomal dominant gene with variable expressivity.

The Gene for Cherubism Maps to Chromosome 4p16

“…Family B (fig. 5) has been described elsewhere (Salzano and Ebling 1966) and is composed of five members in two generations. Both affected individuals are males.…”

Querubismo

“…15/16 117: [23][24][25][26][27][28][29][30][31][32][33][34]1974 FtG. 12 Osso cortlcal sendo reabsorvtdo.…”

“…Posteriormente Anderson, McClendon e Gornelius (2) revisaram 65 casos de querubismo, concluindo que existe um gen dominante com penetração de quase 100% em homens e entre 5O e 70Yo em mulheres. Salzano e Ebling (34) descreveram uma família na qual 5 indivíduos apresentavam querubismo. As inÍormações obtidas envolveram cinco gerações num totali de 95 indivíduos, 23 dos quais examinados.…”