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 language | English (US) |
|---|---|
| Title of host publication | Annales de Radiologie Medecine Nucleaire |
| Pages | 125-135 |
| Number of pages | 11 |
| Volume | 22 |
| Edition | 2-3 |
| State | Published - 1979 |
| Externally published | Yes |
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ASJC Scopus subject areas
- Radiology Nuclear Medicine and imaging
Cite this
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 proceeding › Chapter
}
TY - CHAP
T1 - The spondylometaphyseal dysplasias. Clinical, radiologic and pathologic correlation
AU - Lachman, R.
AU - Zonana, Jonathan (Jon)
AU - Khajavi, A.
AU - Rimoin, D.
PY - 1979
Y1 - 1979
N2 - 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.
AB - 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.
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UR - http://www.scopus.com/inward/citedby.url?scp=0018388699&partnerID=8YFLogxK
M3 - Chapter
C2 - 485064
AN - SCOPUS:0018388699
VL - 22
SP - 125
EP - 135
BT - Annales de Radiologie Medecine Nucleaire
ER -