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 7...

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Bibliographic Details
Published in:	American journal of medical genetics 2003-06, Vol.119A (2), p.188-193
Main Authors:	Debeer, Philippe, Pykels, E., Lammens, J., Devriendt, K., Fryns, J.‐P.
Format:	Article
Language:	eng
Subjects:	Biological and medical sciences Child Child, Preschool Diseases of the osteoarticular system Female Genes, Dominant Humans Infant, Newborn Male Malformations and congenital and or hereditary diseases involving bones. Joint deformations Medical sciences melorheostosis Melorheostosis - genetics Melorheostosis - physiopathology osteopoikilosis Osteopoikilosis - genetics Osteopoikilosis - physiopathology Pedigree postzygotic mutation
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Summary:	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. © 2003 Wiley‐Liss, Inc.
ISSN:	1552-4825 0148-7299 1552-4833 1096-8628