The document outlines various laboratory studies and imaging techniques used for diagnosing and evaluating conditions such as achondroplasia, including cytogenetics, MRI, and pulmonary function tests. It emphasizes the importance of specific evaluations, such as 3D imaging and prenatal ultrasonography, as well as the recommendation for the administration of somatotropin in young patients. Additionally, it highlights the increased standardized mortality ratio and the involvement of multidisciplinary care in treatment.

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- Ulnar styloid process

16. Image courtesy:

17. Image courtesy:

18. CT scanning
 MRI (Magnetic Resonance Imaging)
 Prenatal ultrasonography
 Ultrasonography of 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. Ultrasonography is not useful for
diagnosis in 1st 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.Aqeela Sadia
PGR
Deptt. of interventional radiology
LGH- Lahore
Dr.Tariq Imran
Consultant neurosurgen
Deptt. of neurosugery
LGH- Lahore

36. Books
1.
2.
Radiology review manual, Wolfgang Danhert, 6th edition, Vol.1, Page
42
Radiology, Skeletol system 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