101 Spondyloepiphyseal Dysplasia Tarda
Spondyloepiphyseal Dysplasia Tarda 893
SED tarda, SED tarda X-linked
Short-trunk dwarfism, broad thorax, small hips, pre- mature osteoarthritis
Frequency: Uncommon, more than 70 cases report- ed; underdiagnosed.
Genetics
X-linked recessive (OMIM 313400), caused by muta- tion in the SEDL gene, which encodes for a protein with a putative role in vesicular transport, whose locus has been mapped to Xp22; an autosomal dominant form has been also recognized (OMIM 184100), and, possibly, an autosomal recessive form (OMIM 271600).
Clinical Features
• Short-trunk dwarfism, identifiable during child- hood (diagnosis after 4 to 6 years); adult height 135–155 cm
• Normal head, flat facies
• Short neck
• Barrel chest, pectus carinatum, protruding ster-
• Kyphoscoliosis, lumbar lordosisnum
• Premature osteoarthrosis of spine and hips, restricted mobility (back and hip pain)
• Normal extremities, normal intelligence Differential Diagnosis
• Spondyloepiphyseal dysplasia congenita
• Progressive pseudorheumatoid arthritis in child- hood
Radiographic Features Spine
• Ovoid vertebral bodies (in childhood)
• Platyspondyly with central bulging of superior and inferior endplates of vertebrae, most pro- nounced in lumbar spine (hump deformity devel- ops in late childhood or early adolescence)
• Narrowed disc spaces (in their central and dorsal aspects)
• Scoliosis
• Odontoid hypoplasia
Generalized Skeletal Abnormalities
• Mild to moderate epiphyseal dysplasia, flattening of intercondyloid notch at distal femur
• Premature (2nd decade) osteoarthritic changes (spine, hip, shoulder)
Pelvis
• Small ilia, long ischial and pubic bones
• Coxa vara with short femoral necks
S
Fig. 101.1. Patient 1, 10 years. Note short-trunk dwarfism, bar- rel chest, narrow pelvis, normal head, and normal extremities.
(Reprinted, with permission, from Mastroiacovo et al. 1990)
Spondyloepiphyseal Dysplasia Tarda 894
Fig. 101.2 a–f. a, b Patient 2, age 14 years; c, d Patient 3, at 22 years (c) and 27 years of age (d). e, f Patient 4, adult. Gener- alized flattening of vertebral bodies with central bulging of su- perior and inferior end-plates (hump-shaped vertebrae), most
pronounced in lumbar spine. Disc spaces are narrowed, espe- cially dorsally. In c note absence of bone in region of ring epi- physes, and premature osteoarthritic changes; d odontoid hy- poplasia and atlanto-axial instability; e mild lumbar scoliosis
a b c d
e f
Spondyloepiphyseal Dysplasia Tarda 895
S
Fig. 101.3. aPatient 2, age 14 years;
bpatient 3, at 14 years of age; c pa- tient 4, adult. Iliac bones are small, ischial and pubic bones, relatively long. Femoral necks are short and in varus position, and proximal femoral epiphyses show different degrees of flattening. Acetabula are not fully developed, and pre- mature osteoarthritic changes are visible: a in right hip, b in both hips, and c in left hip
a
b
c
Bibliography
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chondrodysplasia with characteristic vertebral configura- tion in the adult. Radiology 1964; 82: 833–9
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Spondyloepiphyseal Dysplasia Tarda 896
Fig. 101.4. Patient 3, at age 14 years. Note bilateral flattening of femoral intercondyloid notches
