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A probable monogenic form of polyostotic fibrous dysplasia
Author(s) -
AlvarezArratia M. C.,
Rivas F.,
AvilaAbundis A.,
Hernández A.,
Nazará Z.,
López C.,
Castillo A.,
Cantu J. M.
Publication year - 1983
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1983.tb02224.x
Subject(s) - nephew and niece , aunt , cousin , medicine , polyostotic fibrous dysplasia , fibrous dysplasia , anatomy , philosophy , linguistics , archaeology , sociology , anthropology , history
A 37 year‐old female patient with polyostotic fibrous dysplasia (PFD) is described. She presented the typical “cafe au lait” spots and severe bone involvement including a maxillary osteosarcoma. The father, four sibs, two nephews, two paternal aunts and two paternal first cousins were clinically examined, and seven of them also radiologically evaluated. “Cafe au lait” spots were found in the father, three sibs, one nephew, one aunt and one first cousin. Although no definite PFD bone lesions, mild radiological abnormalities were found in the father, three sibs and one nephew. These findings were interpreted as the variable expression of a pleiotropic gene. The present observation and three previous familial cases of this entity strongly suggest the existence of a form of PFD determined by an autosomal dominant gene.