102 Spondylometaphyseal Dysplasia, Kozlowski Type
Spondylometaphyseal Dysplasia, Kozlowski Type 897
SMD Kozlowski type
Short-trunk dwarfism, waddling gait, restricted joint motion, progressive kyphoscoliosis, metaphyseal femoral changes
Frequency: Rare (fewer than 50 documented cases).
Genetics
Autosomal dominant (OMIM 184252); the gene locus maps to 12q13.11-q13.2.
Clinical Features
• Normal length at birth, moderately short stature between 1 and 4 years; adult height usually under 140 cm
• Normal head, normal intelligence
• Short trunk
• Waddling gait in early childhood
• Kyphoscoliosis (usually manifesting during adoles- cence or adulthood), early osteoarthritic changes
• Restricted joint mobility
• Genu valgum Differential Diagnosis
• Other spondylometaphyseal dysplasias (especially Sutcliffe type)
• Spondyloepimetaphyseal dysplasias
• Spondyloenchondrodysplasia
• Brachyolmia
• Metatropic dysplasia
Radiographic Features Spine
• Generalized severe platyspondyly
• Anterior wedging or tonguing of vertebral bodies
• ‘Open staircase’ vertebral bodies, with medially placed pedicles
• Progressive kyphoscoliosis of varying degree
• Early spondylotic changes
Pelvis
• Short femoral necks, coxa vara
• Short and broad basilar portions of ilia, horizontal acetabula, flattened iliac wings
Limbs
• Widening, sclerosis and irregularity of metaphy- ses of tubular bones (most marked in proximal femurs)
• Normal or minimally altered epiphyses
• Retarded skeletal maturation (especially carpals)
• Moderately short tubular bones
S
Fig. 102.1. Patient 1, age 4 years. Short stature, short neck and trunk, normal head, kypholordosis, and relatively large hands and feet. (Reprinted, with permission, from Mastroiacovo et al.
1990)
Bibliography
Diren HB, Buyukgebiz B, Buyukgebiz A, Pirnar T. Spondylo- metaphyseal dysplasia, type VII. Pediatr Radiol 1992; 22:
Le Quesne GW, Kozlowski K. Spondylometaphyseal dysplasia.
Br J Radiol 1973; 46: 685–91
Maroteaux P, Spranger J. The spondylometaphyseal dysplasias.
A tentative classification. Pediatr Radiol 1991; 21: 293–7 Fig. 102.2. a, b Patient 2, age 7 years. (Courtesy of Dr. S.
Fasanelli, Ospedale Bambino Gesù, Roma, Italy). Note flat and broad vertebral bodies, with anterior wedging, and large disc spaces. c, d Patient 3, adult. Note extreme flattening of vertebral
bodies, more pronounced in thoracic than in lumbar spine.
Also note thoracolumbar gibbus and diffuse spondylotic changes
a b c d
Spondylometaphyseal Dysplasia, Kozlowski Type 899
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Fig. 102.3. aPatient 2, age 7 years.
Broadening of basilar portions of ilia, horizontal acetabula, and mild shortening of femoral necks, with metaphyseal irregularities and normal epiphyses. (Courtesy of Dr. S. Fasanelli, Ospedale Bambino Gesù, Roma, Italy.) b Patient 3, adult. Note extreme shortening of femoral necks, with severe varus deformity. Femoral heads are somewhat flat and small, and acetabular roofs are sclerotic and mildly irregular. Sacroiliac syn- chondroses are still open
a
b
Fig. 102.4 a, b. Patient 3, adult.
Moderate shortening of tubular bones in the upper limb, with metaphyseal undermodeling
Spondylometaphyseal Dysplasia, Kozlowski Type 901
S
Fig. 102.5. aPatient 2, age 7 years. Note shortening of tubular bones of hand, with minimal metaphyseal irregularities. Com- pare with more significant metaphyseal changes of distal ulna and radius. Ossification of the carpal bones is markedly retarded, appropriate to age 3 years and 6 months. (Courtesy
of Dr. S. Fasanelli, Ospedale Bambino Gesù, Roma, Italy.) bPatient 3, adult. Tubular bones are short, with broad ends and advanced osteoarthritic changes. Distal ends of radius and ulna are mildly dysplastic
a b
Fig. 102.6. Patient 2, 7 years. Note irregular, cup-shaped metaphyses of distal metatarsals and proximal phalanges of toes. (Courtesy of Dr. S. Fasanelli, Ospedale Bambino Gesù, Roma, Italy)
