Clinical Findings for Untreated Pseudoarthrosis of Femur with Osteogenesis Imperfecta.

Chapter 119 covers disorders of the osteogenesis imperfecta group (Type 1 (MIM 116200), Type IIA (MIM 166210), Type IIC, Ypte III/IIB (MIM 259420), and Types IV and V (MIM 166220, 610967), including major clinical findings, radiographic features, and differential diagnoses.

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Ear Surgery in Osteogenesis Imperfecta: Clinical Findings and Short-term and Long-term Results

Archives of Otolaryngology - Head and Neck Surgery ◽

10.1001/archotol.1990.01870030081014 ◽

1990 ◽

Vol 116 (3) ◽

pp. 317-323 ◽

Cited By ~ 31

Author(s):

T. J. T. M. Garretsen ◽

W. R. J. Cremers

Keyword(s):

Osteogenesis Imperfecta ◽

Clinical Findings ◽

Long Term Results ◽

Short Term ◽

Ear Surgery

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Expanding the phenotype of SPARC-related osteogenesis imperfecta: clinical findings in two patients with pathogenic variants in SPARC and literature review

Journal of Medical Genetics ◽

10.1136/jmedgenet-2021-107942 ◽

2021 ◽

pp. jmedgenet-2021-107942

Author(s):

Anna Durkin ◽

Catherine DeVile ◽

Paul Arundel ◽

Mary Bull ◽

Jennifer Walsh ◽

...

Keyword(s):

White Matter ◽

Osteogenesis Imperfecta ◽

Motor Development ◽

Bone Fractures ◽

Brain Mri ◽

Subcortical White Matter ◽

Clinical Findings ◽

Long Bone ◽

Vertebral Compression Fractures ◽

Multiple Fractures

BackgroundSecreted protein, acidic, cysteine rich (SPARC)-related osteogenesis imperfecta (OI), also referred to as OI type XVII, was first described in 2015, since then there has been only one further report of this form of OI. SPARC is located on chromosome 5 between bands q31 and q33. The encoded protein is necessary for calcification of the collagen in bone, synthesis of extracellular matrix and the promotion of changes to cell shape.MethodsWe describe a further two patients with previously unreported homozygous SPARC variants with OI: one splice site; one nonsense pathogenic variant. We present detailed information on the clinical and radiological phenotype and correlate this with their genotype. There are only two previous reports by Mendozo-Londono et al and Hayat et al with clinical descriptions of patients with SPARC variants.ResultsFrom the data we have obtained, common clinical features in individuals with OI type XVII caused by SPARC variants include scoliosis (5/5), vertebral compression fractures (5/5), multiple long bone fractures (5/5) and delayed motor development (3/3). Interestingly, 2/4 patients also had abnormal brain MRI, including high subcortical white matter changes, abnormal fluid-attenuated inversion in the para-atrial white matter and a large spinal canal from T10 to L1. Of significance, both patients reported here presented with significant neuromuscular weakness prompting early workup.ConclusionCommon phenotypic expressions include delayed motor development with neuromuscular weakness, scoliosis and multiple fractures. The data presented here broaden the phenotypic spectrum establishing similar patterns of neuromuscular presentation with a presumed diagnosis of ‘myopathy’.

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Osteogenesis Imperfecta and Other Disorders with Decreased Bone Density

Bone Dysplasias ◽

10.1093/med/9780190626655.003.0014 ◽

2018 ◽

pp. 497-556

Author(s):

Jürgen W. Spranger ◽

Paula W. Brill ◽

Christine Hall ◽

Gen Nishimura ◽

Andrea Superti-Furga ◽

...

Keyword(s):

Bone Density ◽

Osteogenesis Imperfecta ◽

Clinical Findings ◽

Type I ◽

Osteogenesis Imperfecta Type ◽

Type Iv ◽

Bruck Syndrome ◽

Carpenter Syndrome ◽

Type V ◽

Osteogenesis Imperfecta Type I

This chapter discusses osteogenesis imperfecta and other disorders with decreased bone density and includes discussion on osteogenesis imperfecta itself, osteogenesis imperfecta (type I), osteogenesis imperfecta (type IIA), osteogenesis imperfecta (type IIC), osteogenesis imperfecta (type III/IIB), osteogenesis imperfecta (type IV), osteogenesis imperfecta (type V), idiopathic juvenile osteoporosis, Bruck syndrome, Cole-Carpenter syndrome, Stüve-Wiedemann syndrome, osteoporosis-pseudoglioma syndrome, spondyloocular dysplasia, geroderma osteodysplasticum, calvarial doughnut lesions-osteoporosis syndrome, and gnathodiaphyseal dysplasia. Each discussion includes major radiographic features, major clinical findings, genetics, major differential diagnoses, and a bibliography.

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Clinical Findings with SAL Audiometry: Some Further Observations

Journal of Speech and Hearing Disorders ◽

10.1044/jshd.3004.325 ◽

1965 ◽

Vol 30 (4) ◽

pp. 325-335

Author(s):

George E. Lynn ◽

Jack A. Willeford

Keyword(s):

Clinical Findings

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Spinal Impairment Evaluation: Fifth Edition Changes

Guides Newsletter ◽

10.1001/amaguidesnewsletters.2001.janfeb01 ◽

2001 ◽

Vol 6 (1) ◽

pp. 1-3

Author(s):

Robert H. Haralson

Keyword(s):

Spinal Cord ◽

Lower Extremity ◽

Range Of Motion ◽

Upper Extremity ◽

Spinal Cord Injuries ◽

Clinical Findings ◽

Fourth Edition ◽

Treatment Results ◽

Standard Terminology ◽

Made In

Abstract The AMA Guides to the Evaluation of Permanent Impairment (AMA Guides), Fifth Edition, was published in November 2000 and contains major changes from its predecessor. In the Fourth Edition, all musculoskeletal evaluation and rating was described in a single chapter. In the Fifth Edition, this information has been divided into three separate chapters: Upper Extremity (13), Lower Extremity (14), and Spine (15). This article discusses changes in the spine chapter. The Models for rating spinal impairment now are called Methods. The AMA Guides, Fifth Edition, has reverted to standard terminology for spinal regions in the Diagnosis-related estimates (DRE) Method, and both it and the Range of Motion (ROM) Method now reference cervical, thoracic, and lumbar. Also, the language requiring the use of the DRE, rather than the ROM Method has been strengthened. The biggest change in the DRE Method is that evaluation should include the treatment results. Unfortunately, the Fourth Edition's philosophy regarding when and how to rate impairment using the DRE Model led to a number of problems, including the same rating of all patients with radiculopathy despite some true differences in outcomes. The term differentiator was abandoned and replaced with clinical findings. Significant changes were made in evaluation of patients with spinal cord injuries, and evaluators should become familiar with these and other changes in the Fifth Edition.

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