Acondroplazy - Diagnosis

By genetic studies for mutation analysis of specific plasma acondroplaziei mother to fetus is practiced when a short leg ultrasound detected. DNA testing is done when both parents are affected.
Imaging Studies:Radiography of the skull, spine and extremities show characteristic elements.Skull radiograph shows:Medium-face hypoplasia, large Calvary-Protruding front, shortening the skull baseForamen magnum diameter-reduction.Lumbar radiograph shows:Interpediculare space-collapse at L 1-5-Shortened pedicles and vertebral bodiesVarying degrees of kyphosis-thoracolombarDifferent degrees, after outpatient lumbar lordosis-Degenerative changes of the previous column.Pelvic radiograph shows:Wider pelvis and short-Femoral neck is short-trohanteriana hyperplasiaAcetabular fossa is horizontal-Observe the changes of the arthritic hip.Limb radiograph shows:-Thickening metaphyses, short and thick bones-Ends of the proximal humerus and femur shows oval radiolucenta-Deltoid tuberosity and patellar tendon are prominent-Thickness increase affects mostly the tibia.
CT scan accurately measures the diameter of foramen. The spinal canal is collapsed especially in lumbar segments. CT is used to develop 3D images of the chest cavity to calculate vlumul lungs.Magnetic resonance is used to evaluate compression cervicomedulare the foramen magnum, fusion C1 subaxiale stenosis, osteomalacia, intramedullary cysts. Detects ventricular dilatation and hydrocephalus without communicating or not hidrocefalus forms.Prenatal ultrasound detects diminished rate of growth of the femur after 20-24 weeks. acondroplaziei is useful for diagnosis in the first half of pregnancy.Brain sonography in newborns is used to detect the size ventricles.Abnormal somatosensory evoked potentials occurring in 40% of cases with neurologically intact tract associated with cord compression at the foramen magnum.Lung function testing is useful for evaluating preoperativa when respiratory symptoms are present. Typical of vital capacity is low.Sleep study is done if symptoms suggest respiratory obstruction.The cause of obstruction must be established to guide treatment. It is necessary to differentiate between central sleep apnea by compression of the brain and obstructive sleep apnea caused by facial hypoplasia.The differential diagnosis is made with the following conditions: diastrofica dysplasia, epiphyseal dysplasia, Thanatophoric piticismul, acondrogeneza, piticism metatrofic, asphyxiating dysplasia of the thorax, Conrad disease.