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Spondyloepiphyseal Dysplasia Workup

  • Author: Shital Parikh, MD; Chief Editor: Dennis P Grogan, MD  more...
 
Updated: Nov 02, 2015
 

Laboratory Studies

Fine metachromatic inclusions have been described in peripheral lymphocytes. The urinary excretion of acid mucopolysaccharides, including keratosulfate, is normal in patients with SED, in contrast to that in patients with Morquio disease.

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Imaging Studies

Radiography

SED congenita

According to Spranger and Langer,[2] a complete skeletal survey is warranted in the initial assessment. This includes anteroposterior and lateral skull, cervical skull with anteroposterior, open mouth, and lateral views in flexion, neutral, and extension; posteroanterior views of the wrist and hand; anteroposterior and lateral projections of the elbows, hips, and knees; anteroposterior and lateral views of the thoracolumbar vertebrae; and an anteroposterior film of the lumbar and sacral regions.[29]

A generalized delay occurs in the development of ossification centers. The epiphyseal centers of the distal femur and proximal tibia, os pubis, calcaneus, and talus, which are usually present at birth, are absent in these patients. The femoral heads may not be apparent on radiographs until patients are aged 5 years. When the epiphyses do appear, they are flattened and irregular in shape (see image below).

Spondyloepiphyseal dysplasia. Radiograph of the pe Spondyloepiphyseal dysplasia. Radiograph of the pelvis depicting delayed ossification of capital femoral epiphyses, metaphyseal flaring, horizontal acetabular roofs, triangular fragment on the inferior aspect of the broad femoral neck, and coxa vara.

Varying degrees of platyspondyly are present, with posterior wedging of vertebral bodies giving rise to oval, trapezoid, or pear-shaped vertebrae, as seen in the image below. The ossification of the bodies may be incompletely fused, as depicted in frontal projection. In adolescents and young adults, end plate irregularities and narrowed intervertebral disk spaces become obvious with an increased anteroposterior diameter of the vertebral bodies. Lumbar lordosis is usually exaggerated. Progressive kyphoscoliosis may develop in late childhood. The most marked abnormality is usually at the thoracolumbar junction, where gross ventral hypoplasia may be present.

Spondyloepiphyseal dysplasia. Radiograph of the sp Spondyloepiphyseal dysplasia. Radiograph of the spine depicting increased anteroposterior diameter, platyspondyly, posterior wedging of the vertebrae, and increased lumbar lordosis.

Skull examination may reveal a steep anterior base, with the angle between the floor of the anterior fossa and clivus reaching up to 165° (compared to 110-145° in healthy individuals). Odontoid hypoplasia or os odontoideum leading to atlantoaxial instability is common, as seen in the first image below. Flexion-extension lateral cervical radiographs may reveal anterior, posterior, or anteroposterior instability. The thorax is broad and bell-shaped, as seen in the second image below, and the ribs may flare at the anterior ends. The costovertebral angles are increased, and the intercostal spaces are narrow.

Spondyloepiphyseal dysplasia. Radiograph of the up Spondyloepiphyseal dysplasia. Radiograph of the upper cervical vertebrae depicting ununited odontoid process.
Spondyloepiphyseal dysplasia. Radiograph of the ch Spondyloepiphyseal dysplasia. Radiograph of the chest, depicting bell-shaped chest and decreased height of the trunk due to platyspondyly.

The iliac crests are short and small, with horizontal acetabular roofs and delayed ossification of the pubis. The iliac bones are small in their cephalocaudad dimension, with lack of normal flaring of the iliac wings. The Y cartilage is wide. The acetabular fossae are deep and appear empty due to the severely retarded ossification of femoral heads. Coxa vara of varying severity is almost always present (see image below)

Spondyloepiphyseal dysplasia. Radiograph of the pe Spondyloepiphyseal dysplasia. Radiograph of the pelvis depicting delayed ossification of capital femoral epiphyses, metaphyseal flaring, horizontal acetabular roofs, triangular fragment on the inferior aspect of the broad femoral neck, and coxa vara.

In patients with severe coxa vara, progressive varus deformity may occur, leading to discontinuity of the femoral neck and proximal migration of the greater trochanter. The femoral shafts ride high under the iliac wings, and pseudoarticulation of the greater trochanters with the lateral margins of iliac crest is suggested.

The delayed ossification of the femoral head predisposes the hip to deformation with flattening, lateral extrusion, hinge abduction, and premature osteoarthritis. Ossification of the femoral head and neck proceeds slowly, frequently from multiple foci. The metaphyseal line of ossification frequently has a mottled appearance, and the femoral heads appear mottled and granular.

The ossification centers of the distal femur and proximal tibia are delayed, leading to flattening and irregularity. Genu valgum is usually present, with overgrowth of the medial femoral condyle. Mild flaring of the metaphyses of long tubular bones may be present, along with irregular ossification from alterations in endochondral bone formation. Full-length radiographs of the lower extremity may be indicated to depict the overall alignment before surgical procedures of the hip or knee.

The long tubular bones are relatively short and broad. Some metaphyseal flaring is present, especially in the region of the distal femur and proximal and distal humerus. The short tubular bones of the hands and feet are minimally broadened and shortened. Ossification of carpal and tarsal centers is usually delayed or disorganized, with occasional extra epiphyses. Wynne-Davies reported on the appearance of an epiphysis at the base of the second metacarpal, first seen in the patient at age 1-2 years.

SED tarda

Changes may not be apparent in radiographic images in children younger than 4-6 years. Changes suggestive of atlantoaxial instability, platyspondyly, kyphoscoliosis, and epiphyseal involvement are similar to those seen in patients with SED congenita. However, the thoracic spine is typically involved to a greater extent in SED tarda. In the X-linked recessive type of SED tarda, a mound of bone is typically present in the central and posterior portions of the superior and inferior end plates. These changes are seen on lateral radiographs and are not features of the autosomal dominant or recessive types of SED tarda.

Epiphyseal involvement in SED tarda is primarily in the shoulders, as seen in the image below, hips, and knees symmetrically. For the weightbearing joints of the lower extremities, delayed ossification predisposes the joint to deformation and premature osteoarthritis. Changes in the hip may mimic bilateral Legg-Calve-Perthes disease.

Spondyloepiphyseal dysplasia. Radiograph of should Spondyloepiphyseal dysplasia. Radiograph of shoulder, depicting severe epiphyseal involvement of proximal humerus, leading to premature osteoarthritis.

Varying degrees of coxa magna, flattening, extrusion, and subluxation are present.

Magnetic resonance imaging

Cervical myelopathy may result from C1-C2 instability. Magnetic resonance imaging (MRI) can be used to delineate cord compression. MRI may be obtained prior to surgical intervention in patients with severe spinal deformities.

MRI may be used to evaluate the condition of the epiphyseal centers prior to reconstructive procedures.

Hip arthrography

Hip arthrography may be indicated to document congruity of the femoral head or hinge abduction. Severe varus deformity of the cartilaginous femoral neck is usually present and can be depicted on arthrography.

Computed tomography

Computed tomography (CT) scan may be used to assess the configuration of bones and joints prior to surgical intervention. Three-dimensional reconstructed images may help in surgical planning in severe cases.

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Other Tests

Although the gene for SED congenita has been located, its location is variable. Prenatal gene testing is available. Prenatal testing for SED tarda may be offered based on molecular diagnosis.

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Histologic Findings

Yang et al described the pathologic findings in patients with SED.[30] Abnormalities of the proliferative zone have been identified, with microcystic areas surrounded by a ring of cells. The chondrocytes of the resting zone appear vacuolated, containing periodic acid-Schiff (PAS)–positive cytoplasmic inclusions. Ultrastructural examination revealed these inclusions to be accumulations of fine granular material in dilated cisterns of rough endoplasmic reticulum. However, heterogeneity is present, and these findings are not consistent.

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Contributor Information and Disclosures
Author

Shital Parikh, MD Associate Professor, Department of Pediatric Orthopedic Surgery, Cincinnati Children's Hospital Medical Center

Shital Parikh, MD is a member of the following medical societies: American Academy of Orthopaedic Surgeons, American Medical Association, Orthopaedic Research Society

Disclosure: Nothing to disclose.

Coauthor(s)

Preeti Batra, MD, MBBS Staff Physician, Department of Radiology, VS Hospital, India

Disclosure: Nothing to disclose.

Alvin H Crawford, MD, FACS Professor Emeritus of Pediatrics and Orthopedic Surgery, University of Cincinnati College of Medicine; Director, Founding Division of Pediatric Orthopedic Surgery, Department of Orthopedic Surgery, Cincinnati Children's Hospital Medical Center

Alvin H Crawford, MD, FACS is a member of the following medical societies: Ohio State Medical Association, Scoliosis Research Society, Pediatric Orthopaedic Society of North America

Disclosure: Nothing to disclose.

Specialty Editor Board

Francisco Talavera, PharmD, PhD Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Received salary from Medscape for employment. for: Medscape.

George H Thompson, MD Director of Pediatric Orthopedic Surgery, Rainbow Babies and Children’s Hospital, University Hospitals Case Medical Center, and MetroHealth Medical Center; Professor of Orthopedic Surgery and Pediatrics, Case Western Reserve University School of Medicine

George H Thompson, MD is a member of the following medical societies: American Orthopaedic Association, Scoliosis Research Society, Pediatric Orthopaedic Society of North America, American Academy of Orthopaedic Surgeons

Disclosure: Received none from OrthoPediatrics for consulting; Received salary from Journal of Pediatric Orthopaedics for management position; Received none from SpineForm for consulting; Received none from SICOT for board membership.

Chief Editor

Dennis P Grogan, MD Clinical Professor (Retired), Department of Orthopedic Surgery, University of South Florida College of Medicine; Orthopedic Surgeon, Department of Orthopedic Surgery, Shriners Hospital for Children of Tampa

Dennis P Grogan, MD is a member of the following medical societies: American Medical Association, American Orthopaedic Association, Scoliosis Research Society, Irish American Orthopaedic Society, Pediatric Orthopaedic Society of North America, American Academy of Orthopaedic Surgeons, American Orthopaedic Foot and Ankle Society, Eastern Orthopaedic Association

Disclosure: Nothing to disclose.

Additional Contributors

Charles T Mehlman, DO, MPH Professor of Pediatrics and Pediatric Orthopedic Surgery, Division of Pediatric Orthopedic Surgery, Director, Musculoskeletal Outcomes Research, Cincinnati Children's Hospital Medical Center

Charles T Mehlman, DO, MPH is a member of the following medical societies: American Academy of Pediatrics, American Fracture Association, Scoliosis Research Society, Pediatric Orthopaedic Society of North America, American Medical Association, American Orthopaedic Foot and Ankle Society, American Osteopathic Association, Arthroscopy Association of North America, North American Spine Society, Ohio State Medical Association

Disclosure: Nothing to disclose.

References
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Spondyloepiphyseal dysplasia. Radiograph of the pelvis depicting delayed ossification of capital femoral epiphyses, metaphyseal flaring, horizontal acetabular roofs, triangular fragment on the inferior aspect of the broad femoral neck, and coxa vara.
Spondyloepiphyseal dysplasia. Radiograph of the spine depicting increased anteroposterior diameter, platyspondyly, posterior wedging of the vertebrae, and increased lumbar lordosis.
Spondyloepiphyseal dysplasia. Radiograph of the upper cervical vertebrae depicting ununited odontoid process.
Spondyloepiphyseal dysplasia. Radiograph of the chest, depicting bell-shaped chest and decreased height of the trunk due to platyspondyly.
Spondyloepiphyseal dysplasia. Radiograph of shoulder, depicting severe epiphyseal involvement of proximal humerus, leading to premature osteoarthritis.
Clinical picture of a child with spondyloepiphyseal dysplasia. The child had a limp when she walked. The radiographs reveal Perthes-like changes. Both the hips appear to be in a similar stage of progression.
Clinical picture of a girl with spondyloepiphyseal dysplasia. The sitting height is significantly affected. The trunk is disproportionately shorter than the extremities. The radiographs reveal platyspondyly.
Table 1. Differential Diagnoses of Spondyloepiphyseal Dysplasia Congenita Versus Morquio Disease
Characteristic SED Congenita Morquio Disease
Inheritance Autosomal dominant Autosomal recessive
Molecule affected Collagen type II Mucopolysaccharides
Clinical manifestation Birth End of first year
Flared ilia Absent Present
Os pubis ossification Absent Present
Acetabular angle Small Wide
Femoral neck Varus Valgus
Hands and feet affected Minimal Severe
Eye changes Myopia, retinal tears Corneal clouding
Keratosulfaturia Absent Present
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