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Achondroplasia : Tests

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Tests List

Tests could include:
  • FGFR3 Gene Mutation Analysis
  • Skeletal survey of fetus

Tests Overview Articles

Achondroplasia
During pregnancy, a prenatal ultrasound may show excessive amniotic fluid surrounding the unborn infant. Examination of the infant after birth shows increased front-to-back head size. There may be signs of hydrocephalus ("water on the brain. X-ray...
Source:ADAM
Date:October 11, 2007
Achondroplasia
Achondroplasia is generally diagnosed by physical examination at birth. The characteristic findings of short stature, rhizomelic shortening of the limbs, and specific facial features become more pronounced over time. In addition to being diagnosed...
Source:Gale Encyclopedia of Genetic Disorders Part I
Achondroplasia
Achondroplasia is generally diagnosed by physical examination at birth. The characteristic findings of short stature, rhizomelic shortening of the limbs, and specific facial features become more pronounced over time. In addition to being diagnosed...
Source:Gale Encyclopedia of Genetic Disorders Part II
Achondroplasia
Diagnosis is often made at birth due to the characteristically short limbs, and the appearance of a large head. X-ray examination will reveal a characteristic appearance to the bones, with the bones of the limbs appearing short in length, yet broa...
Source:Gale Encyclopedia of Medicine

Specific Tests Articles

Genetic Testing
Genetic testing is a process which involves examining individuals ' genetic material for the presence of a change that indicates why they may have developed a disease or disorder. Genetic testing may also tell patients if they are at increased risk for developing a disease such as cancer in the future, but currently do not have any symptoms of that particular disease.
Source:Gale Encyclopedia of Cancer
Understanding Gene Testing
Understanding Gene TestingMore and more often, headlines boast of new cancer genes found.No wonder people are left with many unanswered questions. What is the connection between such gene discoveries and cancer?
Source:StayWell
Physical examination
During a physical examination, a health care provider studies a patient's body to determine the presence or absence of physical problems. A typical physical examination includes: Inspection (looking at the body) Palpation (feeling the body with hands) Auscultation (listening to sounds) Percussion (producing sounds)
Source:ADAM
Date:January 22, 2007
Pregnancy ultrasound
A pregnancy ultrasound is a method of seeing the fetus and female pelvic organs during pregnancy. The ultrasound machine sends out high-frequency sound waves. These waves bounce off body structures to create a picture.
Source:ADAM
Date:January 24, 2008
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