Melorheostosis in a family with autosomal dominant osteopoikilosis: report of a third family.
We describe a three-generation family with clinical and radiological findings of osteopoikilosis in five and melorheostosis in one individual. The co-occurrence of both rare bone disorders suggests that both conditions might be related as suggested previously by Butkus et al. [1997: Am J Med Genet 72:43-46] and Nevin et al. [1999: Am J Med Genet 82:409-414]. The findings in this family strengthen the hypothesis that osteopoikilosis is an autosomal dominant condition and that an early postzygotic second hit mutation in the second allele results in melorheostosis.
Debeer
Philippe
P
Centre for Human Genetics, University Hospital Leuven, Herestraat, Leuven, Belgium. philippe.debeer@med.kuleuven.ac.be
Pykels
E
E
Lammens
J
J
Devriendt
K
K
Fryns
J-P
JP
D002648:Child; D002675:Child, Preschool; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008557:Melorheostosis / Q000235:genetics* / Q000503:physiopathology; D010023:Osteopoikilosis / Q000235:genetics* / Q000503:physiopathology; D010375:Pedigree