Achondroplasia
-
Upload
sana-malik -
Category
Health & Medicine
-
view
372 -
download
0
description
Transcript of Achondroplasia
AchondroplasiaSana Ahmed
Roll. No. 22
Laboratory studies for
Achondroplasia
Laboratory studies includes;
Cytogenetics Imaging studies Pulmonary function tests Sleep study
Cytogenetics
DNA testing Plasma analysis for FGFR3 mutation
Imaging studies
Radiographs of skull, spine and extremities reveal the characteristic features like;
1-Shortening of pedicles and vertebral bodies with posterior scalloping
Image courtesy: Asian spine journal
2-Various degrees of thoracolumbar kyphosis before walking age
Image courtesy: Upright doctors’ press
3-Pelvis is typically broad and short, with square-shaped ilium
Image courtesy: Wayne H.Riser, Hip dysplasia- Chapter 83
4-Long bones have metaphyseal flaring.
Geneva foundation foe Medical and Education research
Primary radiologic criteria for diagnosis are..
Decreased interpedicular distance in lumbar spine
Square short ilia
Brachydactyly
Secondary radiographic criteria for diagnosis are..
Long ulnar styloid
Image courtesy: scoop web- Ulnar styloid process
Long distal fibula
Image courtesy:
Dorsal concavity of lumbar vertebra
Image courtesy:
Others imaging techniques includes;
CT scanning MRI (Magnetic Resonance Imaging) Prenatal ultrasonography Ultrasonography of brain
CT scanning
Size of foramen magnum can be measured most accurately by CT
It can be used to develop a 3-D image
Image courtesy:
MRI(Magnetic Resonance Imaging)
A baseline MRI is strongly recommended in infancy
Used to establish cause of neurocranial enlargement
Recommended for preoperative evaluation of lumbar spinal stenosis
Prenatal USG
Ultrasonography is not useful for diagnosis in 1st half of pregnancy
Later, it can detect short-limb dysplasia
USG of brain
Can be used in neonates to detect ventricle size
Image courtesy:
Other tests includes;
Pulmonary function test Sleep study
Management of achondroplasia
Medical care
Somatotropin(a recombinant human growth hormone)
Augments heights of achondroplasiac patients
Best recommended age for maximum results= 1-6 years
Surgical care
Surgical care is opted in following conditions..
Spinal canal stenosis
Thoracolumbar kyphosis
Image courtesy: The science of spinal health
Genu varum
..and
Limb lengthening Neurosurgery(foramen magnum
decompression)
Consultations
Orthodontist Speech therapist Otolaryngologist Geneticist Pulmonologist Pediatrician
Nutritional counseling: Must be adapted in early years
Prognosis
Standardized mortality ratio is increased for all age groups by a factor of 2.27 over that of general population
For better understanding of the details, I have consulted
Dr.Aqeela SadiaPGRDeptt. of interventional radiologyLGH- Lahore
Dr.Tariq ImranConsultant neurosurgenDeptt. of neurosugeryLGH- Lahore
References Books1. Radiology review manual, Wolfgang Danhert, 6th edition,
Vol.1, Page 422. Radiology, Skeletol system and soft tissues, David Sutton,
Vol.5, Page 126, 118, 152, 74
Web referencesMedscape.comWikipedia.orgGenome.govPatient.co.ukMedicinenet.comAchondroplasia.co.ukPubmed.comnlm.nih.gov