Primary Diagnosis

Spondyloepiphyseal dysplasia with failed occipital cervical fusion

Secondary Diagnosis

N/A

Diagnosis Discussion

Spondyloepiphyseal dysplasia (SED) is a descriptive term for a group of disorders with primary involvement of the vertebrae and epiphyseal centers resulting in a short-trunk disproportionate dwarfism. Spondylo refers to spine, epiphyseal refers to the growing ends of bones, and dysplasia refers to abnormal growth. Dwarfing conditions are frequently referred to as short-limb or short-trunk types, according to whether the limbs or trunk is more extensively involved. SED, metatropic dysplasia, and Kniest syndrome are considered short-trunk dwarfing conditions. SED is a generalized dysplasia with primary involvement of the vertebrae and proximal epiphyseal centers. Other generalized dysplasias with significant vertebral involvement, like spondylometaphyseal dysplasia or spondyloepimetaphyseal dysplasia, affect the metaphyseal region of the long bone or metaphyseal and epiphyseal region of the long bone, respectively. The clinical and radiographic differences among the various spondylodysplasias are frequently age-related. SED congenita is a nonlethal form of congenital dwarfism characterized by typical skeletal dysplasias, vertebral changes, and ocular manifestations. It can be diagnosed at birth. In contrast, SED tarda is milder than SED congenita, late in onset, and appearance may be normal at birth. Source: e-medicine; Shital N Parikh, MBBS, Alvin H Crawford, Preeti Batra, MD.

General Anatomic Area:

Thoracic

Secondary Anatomic Area:

spine, skeleton

Disease Category:

Congenital

Contributor:

AE Flanders, MD

Date:

08/01/2005

Difficulty Level:

Medium

Pathology Confirmed?:

Yes
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ACR Category Number:

N/A

Keywords:

dwarfism, short stature, atlanto-axial instability