Skip to main content
NCBI home page
Journal of Medical Genetics logoLink to Journal of Medical Genetics
. 1980 Feb;17(1):53–56. doi: 10.1136/jmg.17.1.53

Frontometaphyseal dysplasia: autosomal dominant or X-linked?

P Beighton, H Hamersma
PMCID: PMC1048490  PMID: 7189217

Abstract

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.

Full text

PDF
53

Images in this article

53Image
on p.53
54Image
on p.54
54Image
on p.54
54Image
on p.54
54Image
on p.54
55Image
on p.55

Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Arenberg I. K., Shambaugh G. E., Jr, Valvassori G. E. Otolaryngologic manifestations of frontometaphysial dysplasia. The Gorlin-Holt syndrome. Arch Otolaryngol. 1974 Jan;99(1):52–58. doi: 10.1001/archotol.1974.00780030056009. [DOI] [PubMed] [Google Scholar]
  2. Danks D. M., Mayne V. Frontometaphyseal dysplasia: a progressive disease of bone and connective tissue. Birth Defects Orig Artic Ser. 1974;10(12):57–60. [PubMed] [Google Scholar]
  3. Danks D. M., Mayne V., Hall R. K., McKinnon M. C. Fronto-metaphyseal dysplasia. A progressive disease of bone and connective tissue. Am J Dis Child. 1972 Mar;123(3):254–258. doi: 10.1001/archpedi.1972.02110090124022. [DOI] [PubMed] [Google Scholar]
  4. Gorlin R. J., Cohen M. M., Jr Frontometaphyseal dysplasia. A new syndrome. Am J Dis Child. 1969 Sep;118(3):487–494. doi: 10.1001/archpedi.1969.02100040489014. [DOI] [PubMed] [Google Scholar]
  5. Holt J. F., Thompson G. R., Arenberg I. K. Frontometaphyseal dysplasia. Radiol Clin North Am. 1972 Aug;10(2):225–243. [PubMed] [Google Scholar]
  6. Kassner E. G., Haller J. O., Reddy V. H., Mitarotundo A., Katz I. Frontometaphyseal dysplasia: evidence for autosomal dominant inheritance. AJR Am J Roentgenol. 1976 Dec;127(6):927–933. doi: 10.2214/ajr.127.6.927. [DOI] [PubMed] [Google Scholar]
  7. Kleinsorge H., Böttger E. Das Gorlin-Cohen Syndrom (fronto-metaphysäre Dysplasie). Rofo. 1977 Nov;127(5):451–458. doi: 10.1055/s-0029-1230740. [DOI] [PubMed] [Google Scholar]
  8. Medlar R. C., Crawford A. H. Frontometaphyseal dysplasia presenting as scoliosis. J Bone Joint Surg Am. 1978 Apr;60(3):392–394. [PubMed] [Google Scholar]
  9. Melnick J. C., Needles C. F. An undiagnosed bone dysplasia. A 2 family study of 4 generations and 3 generations. Am J Roentgenol Radium Ther Nucl Med. 1966 May;97(1):39–48. doi: 10.2214/ajr.97.1.39. [DOI] [PubMed] [Google Scholar]
  10. Poznanski A. K., Garn S. M., Nagy J. M., Gall J. C., Jr Metacarpophalangeal pattern profiles in the evaluation of skeletal malformations. Radiology. 1972 Jul;104(1):1–11. doi: 10.1148/104.1.1. [DOI] [PubMed] [Google Scholar]
  11. Sauvegrain J., Lombard M., Garel L., Truscelli D. Dysplasie fronto-métaphysaire. Ann Radiol (Paris) 1975 Mar;18(2):155–162. [PubMed] [Google Scholar]
  12. Sellars S. L., Beighton P. H. Deafness in Osteodysplasty of Melnick and Needles. Arch Otolaryngol. 1978 Apr;104(4):225–227. doi: 10.1001/archotol.1978.00790040047009. [DOI] [PubMed] [Google Scholar]
  13. Weiss L., Reynolds W. A., Szymanowski R. T. Frontometaphyseal Dysplasia. Evidence for dominant inheritance. Am J Dis Child. 1976 Mar;130(3):259–261. doi: 10.1001/archpedi.1976.02120040037007. [DOI] [PubMed] [Google Scholar]

Articles from Journal of Medical Genetics are provided here courtesy of BMJ Publishing Group

RESOURCES