Stabilization of the Cervical Spine in Spondyloepiphyseal Dysplasia Congenita

Neurosurgery ◽  
1991 ◽  
Vol 28 (4) ◽  
pp. 580-583 ◽  
Author(s):  
Mark S. LeDoux ◽  
Richard C. Naftalis ◽  
Patricia A. Aronin
Keyword(s):  
Cervical Spine ◽  
Bone Dysplasia ◽  
Clinical Findings ◽  
Radiographic Features ◽  
Spondyloepiphyseal Dysplasia ◽  
Odontoid Hypoplasia ◽  
Spondyloepiphyseal Dysplasia Congenita ◽  
Lumbar Hyperlordosis ◽  
Vertebral Bodies ◽  
Ocular Hypertelorism

Abstract Spondyloepiphyseal dysplasia congenita is an inheritable bone dysplasia causing abnormalities that manifest at birth and primarily involve the spine and proximal epiphyses. The clinical findings include short-trunk dwarfism, myopia, frequent retinal detachment, shortening of the spine and proximal extremities, mild thoracic kyphoscoliosis, a barrel-shaped thorax, a short neck, and mild ocular hypertelorism. The characteristic radiographic features are a generalized delay in ossification, flattening and dysplasia of the vertebral bodies, pelvic dysplasia, and retarded ossification of the femoral head and neck. Other radiographic features of interest to the neurosurgeon may be platybasia, kyphoscoliosis, lumbar hyperlordosis, and odontoid hypoplasia. A case of spondyloepiphyseal dysplasia congenita is presented in which an unstable and markedly dysplastic cervical spine was stabilized with Halifax interlaminar clamps and sublaminar wires. The clinical findings and radiographic features are presented and the etiology and neurosurgical management of spondyloepiphyseal dysplasia congenita are discussed.

Spondyloepiphyseal Dysplasia Congenita and Related Type 2/Type 11 Collagen Disorders

2018 ◽  
pp. 65-108
Author(s):  
Jürgen W. Spranger ◽  
Paula W. Brill ◽  
Christine Hall ◽  
Gen Nishimura ◽  
Andrea Superti-Furga ◽  
...  
Keyword(s):  
Clinical Findings ◽  
Differential Diagnoses ◽  
Radiographic Features ◽  
Metaphyseal Dysplasia ◽  
Spondyloepiphyseal Dysplasia ◽  
Bone Dysplasias ◽  
Spondyloepiphyseal Dysplasia Congenita ◽  
Kniest Dysplasia

This chapter further discusses bone dysplasias, and explores achondrogenesis II (hypochondrogenesis), platyspondylic dysplasia (Torrance type), spondyloepiphyseal dysplasia congenita, spondylo-epi-metaphyseal dysplasia (Strudwick type), Kniest dysplasia, spondyloepiphyseal dysplasia (Stanescu type), spondyloperipheral dysplasia, spondyloepiphyseal dysplasia with short metatarsals, Stickler dysplasia, fibrochondrogenesis, and oto-spondylo-megaepiphyseal dysplasia. Each discussion includes major clinical findings, major radiographic features, genetics, major differential diagnoses, and a bibliography.

Type 2 Collagen Group

2012 ◽  
pp. 127-153 ◽  
Author(s):  
Jürgen W. Spranger ◽  
Paula W. Brill ◽  
Gen Nishimura ◽  
Andrea Superti-Furga ◽  
Sheila Unger
Keyword(s):  
Autosomal Dominant ◽  
Clinical Findings ◽  
Differential Diagnoses ◽  
Spondyloepiphyseal Dysplasia ◽  
Collagen Group ◽  
Spondyloepiphyseal Dysplasia Congenita ◽  
Epiphyseal Dysplasia ◽  
Achondrogenesis Type ◽  
Kniest Dysplasia

Chapter 24 covers disorders of the Type 2 collegen group (achondrogenesis type 2 (MIM100610), hypochondrogenesis (MIM 200610), spondyloepiphyseal dysplasia Torrance type (MIM 151210), spondyloepiphyseal dysplasia congenita (MIM 183900), Kniest dysplasia (MIM 256550), spondyloperipheral dysplasia (MIM 271700), spondyloepiphyseal dysplasia with metatarsal shortening (MIM 609162), autosomal dominant spondyloarthropathy (MIM 604864), vitreoretinopathy with phalangeal epiphyseal dysplasia (MIM 120140.0037), Stickler dysplasia (MIM 108300, 604841)), including major clinical findings, radiographic features, and differential diagnoses.

Craniosynostosis Syndromes

2018 ◽  
pp. 829-856
Author(s):  
Jürgen W. Spranger ◽  
Paula W. Brill ◽  
Christine Hall ◽  
Gen Nishimura ◽  
Andrea Superti-Furga ◽  
...  
Keyword(s):  
Bone Dysplasia ◽  
Clinical Findings ◽  
Differential Diagnoses ◽  
Apert Syndrome ◽  
Radiographic Features ◽  
Pfeiffer Syndrome ◽  
Carpenter Syndrome ◽  
Muenke Syndrome

This chapter discusses craniosynostosis syndromes and includes discussion on Apert syndrome, Pfeiffer syndrome, Antley-Bixler syndrome, Saethre-Chotzen syndrome, Baller-Gerold syndrome, Carpenter syndrome, Muenke syndrome, and bent bone dysplasia-FGFR2 type. Each discussion includes major radiographic features, major clinical findings, genetics, major differential diagnoses, and a bibliography.

Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive (MIM 609223)

2012 ◽  
pp. 170-171
Author(s):  
Jürgen W. Spranger ◽  
Paula W. Brill ◽  
Gen Nishimura ◽  
Andrea Superti-Furga ◽  
Sheila Unger
Keyword(s):  
Autosomal Recessive ◽  
Clinical Findings ◽  
Differential Diagnoses ◽  
Radiographic Features ◽  
Spondyloepiphyseal Dysplasia ◽  
Spondyloepiphyseal Dysplasia Tarda

Chapter 28 covers spondyloepiphyseal dysplasia tarda autosomal recessive (MIM 609223), including major clinical findings, radiographic features, and differential diagnoses.

Spondyloepiphyseal Dysplasia Tarda, X-Linked (MIM 313400)

2012 ◽  
pp. 167-169
Author(s):  
Jürgen W. Spranger ◽  
Paula W. Brill ◽  
Gen Nishimura ◽  
Andrea Superti-Furga ◽  
Sheila Unger
Keyword(s):  
Clinical Findings ◽  
Differential Diagnoses ◽  
Radiographic Features ◽  
Spondyloepiphyseal Dysplasia ◽  
Spondyloepiphyseal Dysplasia Tarda

Chapter 27 covers spondyloepiphyseal dysplasia tarda X-linked (MIM 313400), including major clinical findings, radiographic features, and differential diagnoses.

scholarly journals The Managment of cervical spine abnormalities in children with spondyloepiphyseal dysplasia congenita

Medicine ◽  
2019 ◽  
Vol 98 (1) ◽  
pp. e13780 ◽  
Author(s):  
Ali Al Kaissi ◽  
Sergey Ryabykh ◽  
Olga M. Pavlova ◽  
Polina Ochirova ◽  
Vladimir Kenis ◽  
...  
Keyword(s):  
Cervical Spine ◽  
Spondyloepiphyseal Dysplasia ◽  
Spondyloepiphyseal Dysplasia Congenita ◽  
Spine Abnormalities

Metatropic Dysplasia and Other TRPV4-Related Skeletal Dysplasias

2018 ◽  
pp. 135-156
Author(s):  
Jürgen W. Spranger ◽  
Paula W. Brill ◽  
Christine Hall ◽  
Gen Nishimura ◽  
Andrea Superti-Furga ◽  
...  
Keyword(s):  
Autosomal Dominant ◽  
Clinical Findings ◽  
Differential Diagnoses ◽  
Radiographic Features ◽  
Skeletal Dysplasias ◽  
Spondyloepiphyseal Dysplasia ◽  
Spondylometaphyseal Dysplasia ◽  
Metatropic Dysplasia

This chapter discusses metatropic dysplasia and other TRPV4-related skeletal dysplasias, including spondyloepiphyseal dysplasia (Maroteaux type), spondylometaphyseal dysplasia (Kozlowski type), brachyolmia (autosomal dominant), and familial digital arthropathy with brachydactyly. Each discussion includes major radiographic features, major clinical findings, genetics, major differential diagnoses, and a bibliography.

TRPV4 Group

2012 ◽  
pp. 207-220
Author(s):  
Jürgen W. Spranger ◽  
Paula W. Brill ◽  
Gen Nishimura ◽  
Andrea Superti-Furga ◽  
Sheila Unger
Keyword(s):  
Autosomal Dominant ◽  
Clinical Findings ◽  
Differential Diagnoses ◽  
Radiographic Features ◽  
Spondyloepiphyseal Dysplasia ◽  
Spondylometaphyseal Dysplasia ◽  
Metatropic Dysplasia

Chapter 40 covers disorders of theTRPV4 group, including metatropic dysplasia (MIM 156530, 168400), spondyloepiphyseal dysplasia, maroteaux type (MIM 184095), spondylometaphyseal dysplasia, Kozlowski type (MIM 184252), and brachyolmia, autosomal dominant (MIM 113500), as well as major clinical findings, radiographic features, and differential diagnoses for each.

Management of The Cervical Spine Tuberculosis

2018 ◽  
Vol 1 (2) ◽  
pp. 19
Author(s):  
Sabri Ibrahim
Keyword(s):  
Magnetic Resonance Imaging ◽  
Cervical Spine ◽  
Magnetic Resonance ◽  
Spinal Tuberculosis ◽  
Intervertebral Disk ◽  
Posterior Fixation ◽  
Resonance Imaging ◽  
Vertebral Bodies ◽  
Intervertebral Disk Space ◽  
Developed Nations

Tuberculosis of the cervical spine is a rare clinical condition (10%), most commonly affected lower thoracic region (40-50% of the cases). Spinal tuberculosis is a destructive form of tuberculosis. It accounts for approximately half of all cases of musculoskeletal tuberculosis. Spinal tuberculosis is more common in children and young adults. The incidence of spinal tuberculosis is increasing in developed nations. Characteristically, there is a destruction of the intervertebral disk space and the adjacent vertebral bodies, collapse of the spinal elements, and anterior wedging leading to kyphosis and gibbus formation. For the diagnosis of spinal tuberculosis, magnetic resonance imaging is more sensitive than x-ray and more specific than computed tomography. Magnetic resonance imaging frequently demonstrates an involvement of the vertebral bodies on either side of the disk, disk destruction, cold abscess, vertebral collapse, and presence of vertebral column deformities. Anti-tuberculous treatment remains the cornerstone of treatment. Surgery may be required in selected cases, e.g. large abscess formation, severe kyphosis, an evolving neurological deficit, or lack of response to medical treatment. The quality of debridement and bony fusion is optimal when the anterior approach is used. Posterior fixation is the best means of achieving reduction followed by stable sagittal alignment over time. With early diagnosis and early treatment, the prognosis is generally good.

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