Beighton P, Hamersma H
J Med Genet. 1980 Feb;17(1):53-6. doi: 10.1136/jmg.17.1.53.
The clinical and radiographic manifestations in a 45-year-old male with frontometaphyseal dysplasia (FMD) are documented and depicted. Deafness and degenerative osteoarthropathy in weight-bearing joints were the main clinical problems. Widespread patchy cranial sclerosis was reminiscent of Paget's disease, while digital deformity resembled rheumatoid arthritis. On the basis of a review and tabulation of published reports, evidence emerges to support the concept of X-linked inheritance. The relationship between FMD and osteodysplasty remains a matter for speculation.
记录并描述了一名45岁患有额骨干骺端发育不良（FMD）男性的临床和影像学表现。耳聋和负重关节的退行性骨关节炎是主要临床问题。广泛的颅骨片状硬化使人联想到佩吉特病，而手指畸形则类似类风湿关节炎。在对已发表报告进行综述和列表的基础上，出现了支持X连锁遗传概念的证据。FMD与骨发育异常之间的关系仍有待推测。
