Diagnostic Considerations

Other problems to be considered include the following:

Morquio disease (see Table 1 below)
Chondrodysplasia punctata
Pseudoachondroplasia (short-limb dwarfism, hands and feet affected)
Perthes disease (asymmetrical stages, evidence of healing)
Kniest disease (characteristic facies, absent platyspondyly)
Metatrophic dwarfism (paper-thin vertebrae, dumbbell-shaped metaphyseal flaring, battleaxe-like pelvic configuration)

Table 1. Differential Diagnoses of Spondyloepiphyseal Dysplasia Congenita vs Morquio Disease (Open Table in a new window)

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

Differential Diagnoses

Workup

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Media Gallery

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.

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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

Jeffrey D Thomson, MD Professor of Orthopedic Surgery, University of Connecticut School of Medicine; Director of Orthopedic Surgery, Connecticut Children’s Medical Center; Vice President of Medical Staff, Connecticut Children's Medical Center

Jeffrey D Thomson, MD is a member of the following medical societies: American Academy of Orthopaedic Surgeons, Pediatric Orthopaedic Society of North America, Scoliosis Research Society

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.

Spondyloepiphyseal Dysplasia Differential Diagnoses

Diagnostic Considerations

Differential Diagnoses

References

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