PREVIOUSLY UNDESCRIBED SYNDROME OF SPONDYLOMETAPHYSEAL DYSPLASIA, OSTEOCARTILAGINOUS METAPLASIA OF LONG BONES, AND PROGRESSIVE OSTEOLYSIS OF DISTAL PHALANGES
Wr. Osebold et al., PREVIOUSLY UNDESCRIBED SYNDROME OF SPONDYLOMETAPHYSEAL DYSPLASIA, OSTEOCARTILAGINOUS METAPLASIA OF LONG BONES, AND PROGRESSIVE OSTEOLYSIS OF DISTAL PHALANGES, American journal of medical genetics, 80(3), 1998, pp. 187-195
We present the findings and clinical course of a Caucasian woman (now
age 231/2) who has been treated since early childhood for a previously
undescribed syndrome of painful osteocartilaginous metaplasia of long
bone metaphyses and painful distal phalangeal osteolysis and soft tis
sue swelling. Despite extensive evaluations and attempts at effective
treatment, the cause and pathogenesis of her unique musculoskeletal di
sorder remain elusive. (C) 1998 Wiley-Liss, Inc.