achondroplasia-140211094723-phpapp01.pdf

Achondroplasia

3. Laboratory studies includes;
Cytogenetics
Imaging studies
Pulmonary function tests
Sleep study

4. DNA testing
Plasma analysis for FGFR3 mutation

5. Radiographs of skull, spine and extremities
reveal the characteristic features like;

6. Image courtesy: Asian spine journal

7. Image courtesy: Upright doctors’ press

8. Image courtesy: Wayne H.Riser, Hip dysplasia-Chapter 83

9. Geneva foundation foe Medical and Education research

15. Image courtesy: scoop web-Ulnarstyloidprocess

16. Image courtesy:

17. Image courtesy:

18. CT scanning
MRI (Magnetic Resonance Imaging)
Prenatal ultrasonography
Ultrasonographyof brain

19. Size of foramen
magnum can be
measured most
accurately by CT
It can be used to
develop a 3-D
image
Image courtesy:

20. A baseline MRI is strongly recommended
in infancy
Used to establish cause of neurocranial
enlargement
Recommended for preoperative
evaluation of lumbar spinal stenosis

21. Ultrasonographyis not useful for
diagnosis in 1
st
half of pregnancy
Later, it can detect short-limb dysplasia

22. Can be used in
neonates to detect
ventricle size
Image courtesy:

23. Pulmonary function test
Sleep study

25. Somatotropin(a recombinant human
growth hormone)
Augments heights of achondroplasiac
patients
Best recommended age for maximum
results= 1-6 years

26. Surgical care is opted in following
conditions..

29. Image courtesy: The science of spinal health

31. Limb lengthening
Neurosurgery(foramen magnum
decompression)

32. Orthodontist
Speech therapist
Otolaryngologist
Geneticist
Pulmonologist
Pediatrician

33. Nutritional counseling: Must be adapted in
early years

34. Standardized mortality ratio is increased
for all age groups by a factor of 2.27
over that of general population

35. For better understanding of the details, I
have consulted
Dr.AqeelaSadia
PGR
Deptt. of interventional radiology
LGH-Lahore
Dr.TariqImran
Consultant neurosurgen
Deptt. of neurosugery
LGH-Lahore

36. Books
1.Radiology review manual, Wolfgang Danhert, 6
th
edition, Vol.1, Page
42
2.Radiology, Skeletolsystem and soft tissues, David Sutton, Vol.5, Page
126, 118, 152, 74
Web references
Medscape.com
Wikipedia.org
Genome.gov
Patient.co.uk
Medicinenet.com
Achondroplasia.co.uk
Pubmed.com
nlm.nih.gov