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J Med Genet. Feb 1980; 17(1): 53–56.
PMCID: PMC1048490

Frontometaphyseal dysplasia: autosomal dominant or X-linked?


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.

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Selected References

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  • Gorlin RJ, Cohen MM., Jr Frontometaphyseal dysplasia. A new syndrome. Am J Dis Child. 1969 Sep;118(3):487–494. [PubMed]
  • Danks DM, Mayne V, Hall RK, McKinnon MC. Fronto-metaphyseal dysplasia. A progressive disease of bone and connective tissue. Am J Dis Child. 1972 Mar;123(3):254–258. [PubMed]
  • Holt JF, Thompson GR, Arenberg IK. Frontometaphyseal dysplasia. Radiol Clin North Am. 1972 Aug;10(2):225–243. [PubMed]
  • Arenberg IK, Shambaugh GE, Jr, Valvassori GE. Otolaryngologic manifestations of frontometaphysial dysplasia. The Gorlin-Holt syndrome. Arch Otolaryngol. 1974 Jan;99(1):52–58. [PubMed]
  • Danks DM, Mayne V. Frontometaphyseal dysplasia: a progressive disease of bone and connective tissue. Birth Defects Orig Artic Ser. 1974;10(12):57–60. [PubMed]
  • Sauvegrain J, Lombard M, Garel L, Truscelli D. Dysplasie fronto-métaphysaire. Ann Radiol (Paris) 1975 Mar;18(2):155–162. [PubMed]
  • Kassner EG, Haller JO, Reddy VH, Mitarotundo A, Katz I. Frontometaphyseal dysplasia: evidence for autosomal dominant inheritance. AJR Am J Roentgenol. 1976 Dec;127(6):927–933. [PubMed]
  • Weiss L, Reynolds WA, Szymanowski RT. Frontometaphyseal Dysplasia. Evidence for dominant inheritance. Am J Dis Child. 1976 Mar;130(3):259–261. [PubMed]
  • Kleinsorge H, Böttger E. Das Gorlin-Cohen Syndrom (fronto-metaphysäre Dysplasie). Rofo. 1977 Nov;127(5):451–458. [PubMed]
  • Medlar RC, Crawford AH. Frontometaphyseal dysplasia presenting as scoliosis. J Bone Joint Surg Am. 1978 Apr;60(3):392–394. [PubMed]
  • Poznanski AK, Garn SM, Nagy JM, Gall JC., Jr Metacarpophalangeal pattern profiles in the evaluation of skeletal malformations. Radiology. 1972 Jul;104(1):1–11. [PubMed]
  • Sellars SL, Beighton PH. Deafness in Osteodysplasty of Melnick and Needles. Arch Otolaryngol. 1978 Apr;104(4):225–227. [PubMed]
  • Melnick JC, Needles CF. 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. [PubMed]

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