Preview

Spondyloepiphyseal Dysplasia Case Study

Good Essays
Open Document
Open Document
484 Words
Grammar
Grammar
Plagiarism
Plagiarism
Writing
Writing
Score
Score
Spondyloepiphyseal Dysplasia Case Study
A 6-year-old female born with Spondyloepiphyseal dysplasia (SED) was diagnosed with a complex deformity within her cervical spinal region. Her surgeon needed a biomodel detailing the cervical region of C0 to C1/2, which is the upper region of the spine and base of the skull. SED is an inheritable bone dysplasia causing abnormalities that are formed during birth. Characteristics of this bone dysplasia and SED include underdevelopment and fragmentation of the bone and cartilage of the epiphyses, which are the rounded ends or “heads” of the long bones, and underdevelopment of the vertebrae in the spine. Her physical symptoms included growth deficiency occurring before birth and continuing through childhood resulting in a disproportionate short

You May Also Find These Documents Helpful

  • Satisfactory Essays

    Roustabout Case Study

    • 401 Words
    • 2 Pages

    MRI of the lumbar spine obtained on 12/29/08 revealed bilateral spondylolysis and grade 2 spondylolisthesis at L4-5 in…

    • 401 Words
    • 2 Pages
    Satisfactory Essays
  • Good Essays

    A 10-year-old boy is seen for evaluation of short stature and tibial deformity. His past medical history is notable for term birth with the following birth parameters: birth weight was 2460 grams (30 ng/ml), elevated alkaline phosphatase level (491 U/L; normal 100-325 U/L), normal calcium and phosphorous levels, and elevated spot urine N-terminal telopeptides (NTx; 574 nM BCE/mM Cr; normal 152-505 nM BCE/mM Cr). Bone mineral density by Dual-energy X-ray absorptiometry (DXA) showed a total body Z-score of -3.4 indicating bone mineral density below normal range. Molecular genetic testing identified a pathogenic mutation in the IFITM5 gene, confirming a diagnosis of osteogenesis imperfecta, type V.…

    • 730 Words
    • 3 Pages
    Good Essays
  • Good Essays

    Hypnotherapy Case Studies

    • 622 Words
    • 3 Pages

    This child has multiple fractures and if NAI was unlikely or ruled out, multiple fractures could be concerning for brittle bone disease, or osteogenesis imperfecta (OI). OI is caused by a mutation in type I collagen that leads to the formation of weak, brittle bone. The phenotypic expression is highly variable but in the most severe forms, patients experience multiple fractures and require frequent orthopedic procedures in their lifetimes. Since this stem includes clues of NAI (posterior rib fractures, bruises in various stages of healing, disheveled and seemingly neglected child), a genetic etiology is less…

    • 622 Words
    • 3 Pages
    Good Essays
  • Satisfactory Essays

    There was a disc desiccation C2-C3 through C6-C7 with disc height loss at C6-C7. There was Modic type II endplate degenerative changes at C4 and C6. At C3-C4, there was a disc bulge of 1.7 mm with narrowing of the right neural foramen and deformity or the right C4 exiting nerve root. At C4-5, there was grade 1 anterior spondylolisthesis with superimposed broad-based disc protrusion abutting the thecal sac but without spinal canal stenosis. There were disc material and degenerative joint change which caused narrowing of the right greater than left neural foramen with deviation of the C5 exiting nerve root with disc measurement of 2.1 mm. At C5-C6, there was a broad-based disc protrusion abutting the thecal sac but without significant spinal canal stenosis. There were disc material and degenerative joint uncovertebral change that has caused narrowing of the right greater than left neural foramen with deviation of the right C6 exiting nerve root and the disc measurement of 2.1 mm. At C6-C7, there was a broad-based disc protrusion abutting the thecal sac but without a significant spinal canal stenosis. There was concurrent bilateral uncovertebral joint degenerative change. The disc material and degenerative joint change have caused narrowing of the right greater than left neural foramen. The disc protrusion measured 3 mm. There was a reversal of the normal cervical lordosis. An MRI of the thoracic spine reviewed on 07/19/17 documented a degenerative loss of disc height at T6-T7 and T10-T11. There were hemangiomas at T1, T4, and T8. There was a straightening or the normal thoracic kyphotic curvature. An MRI of the left shoulder reviewed on 07/19/17 documented a mild supraspinatus and infraspinatus tendinosis with flat downsloping acromion and mild acromioclavicular joint arthritis. The x-rays of the lumbar spine reviewed on…

    • 545 Words
    • 3 Pages
    Satisfactory Essays
  • Satisfactory Essays

    * How: repetitive stress(that causes interstitial tearing, and inflammation), overuse of flexors or overload activities…

    • 473 Words
    • 2 Pages
    Satisfactory Essays
  • Satisfactory Essays

    Individuals with spina bifida are growing into adulthood and need to have the proper extensive health care. The article says that Spina Bifida is the most common birth defect affecting the central nervous system. It is the most complex birth defect because it is so complex. Diagnosis and treatment begins before birth, this is the first issue of the journal devoted solely to spinal bifida since 1998.This paper is important because the research done teaches us things about spinal bifida which is more prevalent than many other neurogenic disorders, and can impact treatment for people with other development disabilities I just found out that I son has spina bifida. Spina bifida involves genetic and environmental factors; the most common form is myelomeningocele and usually affects the brain. Spina bifida is perceived by the public as an orthopedic disorder because of the difficulties with ambulation. Pre-natal diagnosis involves alpha-fetoprotein screening and ultrasonography in neural tube defects because definitive chromosomal abnormalities are usually not present. More individuals with spinal bifida live into adulthood. The effective transition of care from pediatric to adult setting is increasingly important. The study and information for adults with spinal bifida lags behind all other chronic health…

    • 667 Words
    • 3 Pages
    Satisfactory Essays
  • Powerful Essays

    ATI Child Assessment

    • 25897 Words
    • 104 Pages

    scoliosis : An appreciable lateral deviation in the normally straight vertical line of the spine…

    • 25897 Words
    • 104 Pages
    Powerful Essays
  • Better Essays

    Klippel-Feil Syndrome (KFS) is a rare congenital condition characterized by the abnormal fusion of two or more vertebrae in the cervical spine. This results from a failed division in the vertebrae during the early weeks of fetal development. Although KFS is present at birth, milder cases can go undetected for years until symptoms worsen. The various symptoms that accompany KFS can vary from slight to extreme due to the wide possible range of severity of the fusion. For those who suffer from a multiple fusion, the outward manifestation is obvious and the symptoms become very serious. The most common signs of the condition are a short neck, a low hairline at the back of the head, and the neck having a limited range of motion. Most people only have one or two of these signs, and rarely suffer from all three. Overall, the degree in which the visual characteristics and symptoms occur is completely dependent on the extent of the fusion. There is no direct cause of Klippel-Feil Syndrome, and it occurs sporadically. Once identified and diagnosed through the use of diagnostic imaging, specialized treatment can begin. Treatment can be simple enough to where only physical therapy is…

    • 1243 Words
    • 5 Pages
    Better Essays
  • Good Essays

    Fibrodysplasia ossificans progressive, more commonly known as ‘Stone Man’s Syndrome’ or the abbreviation ‘FOP’, is genetic disease involving the body’s connective tissue. It is one of the medical world’s most rare and debilitating illnesses. As its common name says, Stone Man’s Disease causes “bone tissue begins to grow where muscles, tendons, and other connective tissues should be, effectively restricting movement” (Torres, 2013). As a result, the boy’s ligaments, tendons, and muscles form into solid bone. The individual with the disease will eventually develop a second skeleton over top of his/her original one (Panter, 2013). Fibrodysplasia ossificans progressive is the only documented medical condition in which a normal functioning organ system turns into another (FOP, 2009). Because “the heart and other organs are made up of a different kind of muscle, they do not grow bone tissue” and remain unaffected by the disease’s effects (Torres, 2013).…

    • 878 Words
    • 4 Pages
    Good Essays
  • Good Essays

    For this purpose, a detailed patient history and a thorough clinical evaluation and detailed MRI studies must be carried out. In children, typical imaging features such as a low lying spinal cord and a thickened filum terminale is confirmed by special imaging techniques such as magnetic resonance imaging (MRI) or computed tomography (CT) scan and ultrasound studies.…

    • 879 Words
    • 4 Pages
    Good Essays
  • Good Essays

    The majority of glycosaminoglycan such as KS is produced in the cartilage and therefore accumulated there, causing a direct impact on cartilage and bone development. The Skeletal system is therefore most affected but there is also involvement of the visual system, auditory system, cardiovascular system and respiratory system. Symptoms are treated as they occur. A spinal fusion may prevent permanent spinal cord injury in people whose neck bones are underdeveloped. Bone problems can lead to significant…

    • 361 Words
    • 2 Pages
    Good Essays
  • Good Essays

    The spine is composed of bones called the vertebrae. The vertebrae purpose is to work with fibers to sort the spinal cord. The vertebrae are classified by main regions called the cervical, thoracic, lumbar, sacrum and coccyx. When there is an unusual disease affecting the spine by making an arch it is called scoliosis. Scoliosis is mainly now for its shaped S or C in the spinal column. Its twist and rotation,have cause deformation in different parts of the section of the spine. Scoliosis can be cause by different ways such as congenital ,idiopathic, neuromuscular,and degenerative.Therefore, treatment varies from using braces to surgery depending its progression.…

    • 1016 Words
    • 5 Pages
    Good Essays
  • Satisfactory Essays

    Central Core Disease

    • 313 Words
    • 2 Pages

    What are the signs and symptoms?: Symptoms can either appear at birth or later in life, many different symptoms but often include, hypotonia (decreased muscle tone) at birth, weakness of the facial muscles, skeletal malformations (aka scoliosis and hip dislocation), and mild delay in child development.…

    • 313 Words
    • 2 Pages
    Satisfactory Essays
  • Powerful Essays

    Sky’s legs are about two times the length of her torso, and her arms fall past her hip well into her mid-thigh in length. According to our textbook, “Much of the change in body’s proportions and appearance is due to the lengthening of the long bones of the arms, legs, and fingers (Olsen, Reginato, & Wang, 2000).” The bone development process ossification plays a critical role in the strengthening, hardening, and generating new tissue by the growth plates of the bones which are critical in children’s growth. Some of Sky’s other visible characteristics are her black curly hair, and large almond shaped brown eyes. She has a big grin, and although her front tooth is currently loose hasn’t lost any baby teeth…

    • 1467 Words
    • 6 Pages
    Powerful Essays
  • Good Essays

    Scoliosis Essay

    • 734 Words
    • 3 Pages

    Scoliosis is defined as an abnormal lateral curvature of the spine. It will cause either a C-shaped or S-shaped curvature of the spine. Scoliosis is a disease that attacks the muscles and ligaments of the spinal column causing a sideways twisting and rotation of the spine, ribs, and pelvis. There are many different branches of this disease, but the most common type is idiopathic scoliosis. Idiopathic scoliosis is usually found in children between the ages of ten and twelve. Girls are more likely than boy to have this type of scoliosis. Treatment of scoliosis is based on the type of scoliosis, the person’s age, how much more the person is likely to grow, and the degree of the curve. Scoliosis can be viewed from two extremes; from harmless to horribly deforming.…

    • 734 Words
    • 3 Pages
    Good Essays