Additional work up includes a complete blood count, blood glucose, blood culture, chest x-ray, and an echocardiography.Babies with cyanosis due to congenital heart disease usually present with symptoms hours to days after birth. In addition to cyanosis, they often show signs of tachypnea (fast breathing), a heart murmur, and decreased peripheral pulses. If congenital heart disease is suspected in a newborn, doctors will likely perform several tests to evaluate the heart, including a chest x-ray, echocardiogram, and electrocardiogram. In tetralogy of Fallot, episodes in which infants become cyanotic are called tet spells, typically occurring during feeding or crying. When older, children may squat to feel relief since this increases the systemic vascular resistance causing more blood to go towards the lungs, resulting in increased oxygenation.Babies with cyanosis due to methemoglobinemia also usually present with cyanosis in the neonatal period, but pulse oximetry may be falsely elevated and does not always reveal low blood oxygen saturation. . A co-oximeter can be used to detect levels of methemoglobin in the blood if methemoglobinemia is suspected, by seeing the difference between oxygen saturation on an arterial blood gas and the measurement on a co-oximeter. Additionally, a direct methemoglobin level can be obtained. Prevention/Screening
The United States Environmental Protection Agency has established a maximum contaminant level of 10 mg/L for nitrate and 1 mg/L for nitrite due to the potential harmful effects in infants.A screening tool has been developed to screen for critical cardiac defects, which refers to cardiac lesions that require surgery or intervention in the 1st year of life.
A random mutation in the gene can cause a person with no family history to also have the condition. Diagnostic techniques
A combination of medical tests are used to diagnosis Kniest dysplasia. These tests can include:
Computer Tomography Scan (CT scan) - This test uses multiple images taken at different angles to produce a cross-sectional image of the body. Magnetic Resonance Imaging (MRI) - This technique proves detailed images of the body by using magnetic fields and radio waves. EOS Imaging - EOS imaging provides information on how musculoskeletal system interacts with the joints. The 3D image is scanned while the patient is standing and allows the physician to view the natural, weight-bearing posture. X-rays - X-ray images will allow the physician to have a closer look on whether or not the bones are growing abnormally.The images taken will help to identify any bone anomalies. Two key features to look for in a patient with Kniest dysplasia is the presence of dumb-bell shaped femur bones and coronal clefts in the vertebrae. Other features to look for include:
Platyspondyly (flat vertebral bodies)
Kyphoscoliosis (abnormal rounding of the back and lateral curvature of the spine)
Abnormal growth of epiphyses, metaphyses, and diaphysis
Short tubular bones
Narrowed joint spacesGenetic Testing - A genetic sample may be taken in order to closely look at the patients DNA. Finding an error in the COL2A1 gene will help identify the condition as a type II chondroldysplasia. Treatment
Because Kniest dysplasia can affect various body systems, treatments can vary between non-surgical and surgical treatment.