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Prenatal ultrasound assessment of suspected skeletal dysplasia

Prenatal ultrasound assessment of suspected skeletal dysplasia
Obtain the following General comment Specific comments
Accurate gestational age LMP or early dating ultrasound If unable to obtain accurate dating, consider BPD to FL ratios
Measure all long bones

Are any bones missing?

Determine the pattern and degree of limb shortening

Rhizomelia, mesomelia, acromelia, micromelia (mild, severe, severe/bowed)

Measure foot length Calculate femur to foot length ratio <0.9 abnormal
Assess the shape and contour of long bones Bowing, angulations, fractures If fractures, query occasional or numerous
Determine if decreased mineralization Determine if diffuse or focal If focal, specifically determine if the calvarium or spine or specific bones appear "absent"
Determine if this may be a lethal condition Obtain axial, coronal, sagittal images of the thorax

Look for narrow AP diameter on sagittal

Look for bell-shape thorax on coronal
Obtain chest circumference Chest circumference <5th percentile suspicious
Determine if ribs appear short Ribs should encircle >70 percent thoracic circumference
Obtain chest to abdomen circumference ratio Chest to abdomen ratio <0.6 concern for lethality
Obtain femur length to abdominal circumference ratio <0.16 concern for lethality
Consider obtaining lung volume  
Skull Shape, size, mineralization Assess for cloverleaf deformity, macrocranium, compressibility
Facial profile   Look for frontal bossing, micrognathia, flat nasal bridge, cleft lip/palate
Vertebrae/spine Degree and pattern of demineralization, shape, alignment Is there platyspondyly?
Abnormal posturing of joints   Query kyphoscoliosis, fixed contractures
Hands and feet Postural deformities, abnormal number of digits  
Scapulae size and shape Hypoplastic or dysplastic Think campomelic dysplasia
Growth parameters Placental and well-being parameters Is there intrauterine growth restriction?
LMP: last menstrual period; BPD: biparietal diameter; FL: femur length; AP: anterior-posterior.
Graphic 63933 Version 6.0

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