Achondroplasia Categories

Example Short Bones
Figure 2.4. A radiograph of the lower extremities showing the short proximal parts. Note that the bones are broad and short.

Figure 2.6. A radiograph of the lower extremities in an infant with achondroplasia. Note the broad short bones with irregular and flared epiphyseal lines. Note the typical "telephone handle" appearance of die femur.

Newborn With Short Femur

Figure 2.7. Another example of achondroplasia in a term infant. The infant's length was 45 cm with an upper/lower segment ratio of 2.3. The upper/lower segment ratio for a term infant is 1.7. The shortness of length and the increase in upper/lower segment ratio is due to the short lower extremities. The head circumference of 36 cm is above the 90 th percentile.

Figure 2.7. Another example of achondroplasia in a term infant. The infant's length was 45 cm with an upper/lower segment ratio of 2.3. The upper/lower segment ratio for a term infant is 1.7. The shortness of length and the increase in upper/lower segment ratio is due to the short lower extremities. The head circumference of 36 cm is above the 90 th percentile.

Achondroplasia Newborn

Figure 2.8. A radiograph of an infant with achondroplasia. Note the rhizomelic upper extremities and the narrow ribs which result in compression of the chest.

Figure 2.9. Camptomelic dys-plasia. Note the short limbs and marked bowing of the tibiae in this autosomal recessive type of dwarfism. The infants have a flat facies with a low nasal bridge and micrognathia. The majority of infants die in the neonatal period from respiratory insufficiency.

Figure 2.10. Note the bowed tibiae and the skin dimple over the mid-portion of the leg in the same infant with camptomelic dysplasia. These occur as a result of absent or hypoplastic fibulae in these infants.

Figure 2.10. Note the bowed tibiae and the skin dimple over the mid-portion of the leg in the same infant with camptomelic dysplasia. These occur as a result of absent or hypoplastic fibulae in these infants.

Single Palmer Crease Short

Figure 2.11. The same infant showing the left hand and the right leg. Note the short stubby fingers, single palmar crease and clinodactyly of the fifth finger and the anterior bowing of the tibia with skin dimpling over the convex area. Dimples at a joint are common and usually normal but the presence of skin dimples between joints, such as in this infant, always signifies underlying pathology.

Figure 2.12. Note the marked shortening of the proximal portion of the right upper extremity compared with the distal portion in an infant with camptomelic dysplasia.

Figure 2.12. Note the marked shortening of the proximal portion of the right upper extremity compared with the distal portion in an infant with camptomelic dysplasia.

Where Are The Joints Newborn Head
Your Heart and Nutrition

Your Heart and Nutrition

Prevention is better than a cure. Learn how to cherish your heart by taking the necessary means to keep it pumping healthily and steadily through your life.

Get My Free Ebook


Post a comment