[Two familial cases of hereditary multiple exostoses].
Hereditary multiple exostoses is an autosomal dominant disorder. Three different chromosomal loci have been implicated in this genetically heterogeneous disease. The authors describe a family in which 3 generations were affected, there were data about the disease of an already died grandmother, the father and his daughter were investigated by conventional X-ray and the disease was proved. The disease caused only minor complaints. The exostosis of the father's pelvis showed increased isotope uptake during bone scintigraphic examination, the same region exhibited malignant degeneration on MR examination. Regular check-up of the patients is necessary because of the possibility to a malignant transformation in 1-27% of the cases.
Géher
P
P
C Reumatológiai Osztály, Országos Reumatológiai és Fizioterápiás Intézet, Budapest.
Csauth
K
K
Kaposi
N P
NP
D005097:Exostoses, Multiple Hereditary / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000235:genetics*; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D010375:Pedigree; D014055:Tomography, Emission-Computed; D014057:Tomography, X-Ray Computed