The spondylometaphyseal dysplasias. Clinical, radiologic and pathologic correlation

R. Lachman, Jonathan (Jon) Zonana, A. Khajavi, D. Rimoin

Research output: Chapter in Book/Report/Conference proceedingChapter

6 Citations (Scopus)

Abstract

The spondylometaphyseal dysplasias (SMD) are a recently defined group of chondrodystrophies, characterized radiographically by vertebral and metaphyseal involvement. The authors have studied the clinical, radiological and pathological findings in 11 patients with SMD, as well as reviewing all previously reported cases in an attempt to clarify the classification of this group of disorders. Seven of these patients were of the Kozlowski type, an autosomal dominant trait. This is the only well defined entity among the SMD's. Their clinical presentation in early childhood is either with an abnormal gait or kyphoscoliosis. They later develop moderate disproportionate short stature and degenerative joint disease. The radiological features consist of generalized platyspondyly, hypoplastic pelvis with narrow sacrosciatic notches, mild coxa vara, metaphyseal changes most prominent in the hips and decreased ossification of carpal and tarsal bones. Pathologic examination reveals nonspecific changes including a fibrillar appearance of the intercolumnar matrix. A small number of patients with dysplasia of spine and metaphyses differing from the Kozlowski type SMD have been described under varying names. The authors' remaining 4 patients, as well as the previously described cases, are clinically, radiologically, and pathologically a heterogeneous group of disorders.

Original languageEnglish (US)
Title of host publicationAnnales de Radiologie Medecine Nucleaire
Pages125-135
Number of pages11
Volume22
Edition2-3
StatePublished - 1979
Externally publishedYes

Fingerprint

Coxa Vara
Tarsal Bones
Carpal Bones
Pelvis
Gait
Osteogenesis
Osteoarthritis
Names
Hip
Spine
Strudwick syndrome
Kozlowski type Spondylometaphyseal dysplasia

ASJC Scopus subject areas

  • Radiology Nuclear Medicine and imaging

Cite this

Lachman, R., Zonana, J. J., Khajavi, A., & Rimoin, D. (1979). The spondylometaphyseal dysplasias. Clinical, radiologic and pathologic correlation. In Annales de Radiologie Medecine Nucleaire (2-3 ed., Vol. 22, pp. 125-135)

The spondylometaphyseal dysplasias. Clinical, radiologic and pathologic correlation. / Lachman, R.; Zonana, Jonathan (Jon); Khajavi, A.; Rimoin, D.

Annales de Radiologie Medecine Nucleaire. Vol. 22 2-3. ed. 1979. p. 125-135.

Research output: Chapter in Book/Report/Conference proceedingChapter

Lachman, R, Zonana, JJ, Khajavi, A & Rimoin, D 1979, The spondylometaphyseal dysplasias. Clinical, radiologic and pathologic correlation. in Annales de Radiologie Medecine Nucleaire. 2-3 edn, vol. 22, pp. 125-135.
Lachman R, Zonana JJ, Khajavi A, Rimoin D. The spondylometaphyseal dysplasias. Clinical, radiologic and pathologic correlation. In Annales de Radiologie Medecine Nucleaire. 2-3 ed. Vol. 22. 1979. p. 125-135
Lachman, R. ; Zonana, Jonathan (Jon) ; Khajavi, A. ; Rimoin, D. / The spondylometaphyseal dysplasias. Clinical, radiologic and pathologic correlation. Annales de Radiologie Medecine Nucleaire. Vol. 22 2-3. ed. 1979. pp. 125-135
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