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Skeletal Dysplasia (Dwarfism). By, Marissa Spallino and Kerianne Noonan. Origin of SD. “ Dys ”= Greek: meaning ill or bad. “ Plasia ”= Latin: growth, cellular multiplication. “ Skelet ”= Referring to the spine. “al”= Latin : of the kind, or pertaining to. . Intro.

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skeletal dysplasia dwarfism

Skeletal Dysplasia (Dwarfism)

By, Marissa Spallino

and Kerianne Noonan

origin of sd
Origin of SD
  • “Dys”= Greek: meaning ill or bad.
  • “Plasia”= Latin: growth, cellular multiplication.
  • “Skelet”= Referring to the spine.
  • “al”= Latin: of the kind, or pertaining to.
intro
Intro
  • Dwarfism is a genetic condition affecting bone and cartilage growth.
  • Hundreds of conditions under the topic of Skeletal Dysplasia, the most common being Achondroplasia .
  • Skeletal Dysplasia is an abnormal difference in the size and shape of the legs, arms, trunk, or skull.
  • 1 in every 26,000-40,000 births.
cause
Cause
  • Inherited condition caused by many different genetic mutations in the FGFR3 gene.
  • The gene instructs the body to make a protein necessary for bone growth and maintenance.
  • Most of the cartilage doesn’t convert to bone.
symptoms
Symptoms
  • Shortening in bones of the legs and arms
  • Bowed or fractured bones
  • Abnormal ribs
  • Asymmetric bone growth
  • Irregular thickened or thin bones
  • Large head
  • Stubby fingers
  • Scoliosis
  • Visually different in society
treatment
Treatment
  • No cure.
  • Every case in evaluated differently.
  • Surgical procedures to correct abnormal bone growth if possible.
  • Some children are given growth hormones.
  • PT to help with muscle soreness and tightness in arms, legs, and spine.
prognosis
Prognosis
  • Not life threatening.
  • ¼ of fetuses with a Skeletal Dysplasia will be still born.
  • 30% will die in the first six weeks after birth.
  • Complications with lung and heart diseases can shorten life span.
  • However, many end up living full and normal lives.
research
Research
  • ESDN= European Skeletal Dysplasia Network
  • To understand the molecular genetics and cell-matrix pathophysiology of skeletal dysplasia.
  • The method of this project consists of three components.
  • 1) Patient ascertainment and comprehensive clinical and radiographic diagnosis.
  • 2) Molecular genetics and genetic heterogeneity.
  • 3) Molecular cell pathology and structure/function relationships.
works cited
Works Cited
  • "Skeletal Dysplasias." The Children's Hospital of Philadelphia. N.p., May 2012. Web. 13 May 2014.
  • Dwarfism." Causes. Mayo Clinic, 27 Aug. 2011. Web. 13 May 2014.
  • Cafasso, Jacquelyn. "Skeletal Dysplasia." Medical Information & Trusted Health Advice: Healthline. Healthline, 7 June 2013. Web. 13 May 2014.
  • "European Skeletal Dysplasia Network." European Skeletal Dysplasia Network. N.p., n.d. Web. 13 May 2014.