Hosting 728 files, 2951 images, and 4 contributors.

Random Case

Subtrochanteric Stress Fracture
Joseph Junewick, MD FACR
over 9 years ago
Enter A Workflow
Standard2   Academic2

Please choose a workflow. A standard workflow allows you to browse the repository with full case detail; the academic workflow allows you to browse the repository with limited case detail revealed. Double click on the images to launch image viewer.

ARSt Case Repository

Spondyloepiphyseal Dysplasia

Case Detail

Anatomy: Musculoskeletal
Joseph Junewick, MD FACR
Diagnostic Category: Developmental or Congenital
Created: over 10 years ago
Updated: over 10 years ago
Tags: PEDS
Modality/Study Types: CR
Adobe32 PDF Imagej32 ImageJA


11 year old with short stature.

Case Images


Spondyloepiphyseal Dysplasia


CR – Short iliac bones, wide acetabula, non-ossified femoral epiphyses, short broad femoral necks in mild varus, and flat lumbar vertebrae.


Spondyloepiphyseal dysplasia is an autosomal dominant dwarfism characterized by spine greater than extremities shortening, barrel chest with pectus carinatum, flat face with protruding eyes and cleft palate, genu valgus and club feet.

Radiographic findings include: 1) retarded spinal ossification in infancy, notably the cervical and sacral spine, 2) flat and/or dorsally wedged vertebral bodies often with anterior defects, 3) hypoplasia of the dens with lax ligaments, 4) short ilia and delayed ossification of the pubic bones and femoral heads with short femoral necks and coxa vara, 5) epiphyseal and metaphyseal abnormalities of the tubular bones (extremity shortness is determined by the degree of abnormality), 6) normal hands and feet although delayed appearance of the ossification centers, and 7) moderate kyphoscoliosis and lumbar lordosis.

Mutation of the COL2A1 gene is responsible. Spondyloepiphyseal dysplasia is one of several diseases related to abonormality of the COL2A1 gene and consequently bears similarities to achodrogenesis type II, hypochondrogenesis, SED congenita, autosomal dominant spondyloarthropathy and Stickler dysplasia.


Spranger JW, Brill PW, Poznanski AK. Bone dysplasias: An atlas of genetic disorders of skeletal development, 2nd Ed. Oxford University Press (2002).

Corporate Office: 616.363.7272, 3264 North Evergreen Drive, Grand Rapids, MI 49525

Spectrum Health Helen Devos Childrens Hospital GE HealthCare