A Case Report of Spondyloepiphyseal Dysplasia Congenita.

Abstract

Spondyloepiphyseal dysplasia congenita (SED) is a rare form of skeletal systemic disease, characterized by congenital dwarfism with a short trunk and epiphysial dysplasia in the long bones and vertebral bodies. Patients also frequently suffer from atlanto-axial instability due to os odontoideum. Compression of the spinal cord caused by atlanto-axial instability is a common, serious complication in SED patients, and causes severe spinal cord symptoms or occasionally sudden death. We present an SED patient who underwent a posterior fusion of the occiput to the cervical spine for severe spinal cord symptoms due to atlanto-axial instability.

Atlantoaxial dislocation in a patient with nonsyndromic symmetrical dwarfism: Report of a rare case

“…There are numerous syndromes that present with a combination of dwarfism and CVJ anomalies. [45678910111213141516] These are all distinct syndromes with easily recognizable clinical features and/or skeletal changes. Their clinical features are summarized in Table 1.…”

A Case Report of a Patient with Cleft Palate Carrying the Risk of Tetraplegia

“…Although os odontoideum was found in all reported individuals with SEDC, only 35% to 60% of them had atlanto-axial instability (Gembun et al, 2001). It was reported that all SEDC-diagnosed individuals with spinal canals #10 mm diameter in the sagittal plane may develop symptoms related to the spinal cord (Nakamura et al, 1998 Tofield and Mackinnon (2003) suggested using a Ferno vacuum splint for neck stability of a patient with SEDC during the operation to repair the cleft palate.…”

“…Thereby, special equipment is not needed for intubation of patients with SEDC. Gembun et al (2001) resolved the atlanto-axial dislocation in an adult patient with signs of spinal cord compression by using an iliac bone graft. However, the patient's neurological sequelae had partly reversed.…”

“…The cause of atlanto-axial instability is the lack of or hypoplasia of the os odontoideum. It was suggested that minor trauma or extension during the intubation in surgery may lead to signs of C1–C2 spinal cord compression, including tetraparesis, tetraplegia, myelopathy, or even death in these patients (Kopits, 1976; Nakamura et al, 1998; Redl, 1998; Gembun et al, 2001; Miyoshi et al, 2004). In this case report, we discuss a patient with SEDC on whom we performed repair of the cleft palate, as well as the measures and the risks related to instability.…”

A Rare Case of Spondyloepiphyseal Dysplasia with Ocular Manifestations

“…Spondylo-epiphyseal dysplasia (SED) is a rare heterogeneous form of skeletal systemic disease characterized by congenital dwarfism with a short trunk, and epiphyseal dysplasia in the long bones and vertebral bodies. [1] It results in stunting of growth and premature degenerative arthropathy, due to incongruity of joint surfaces. The underlying defect lies in type II collagen and is classified into two clinical types namely SED congenita and SED tarda.…”