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