1. Assess growth and development in comparison
only to children with achondroplasia.
2. Perform physical examination and appropriate laboratory studies.
3. Review head growth.
4. Consider performing a central nervous system ultrasound at
2, 4, or 6 months if the infants head size increases rapidly in
order to evaluate ventricular size. If the size of the OFC or
ventricles is increasing rapidly, refer the infant to a pediatric
neurologist or pediatric neurosurgeon. At 6 to 12 months, consider
performing additional neuroimaging studies, if appropriate.
5. Check motor development and discuss development; note on the
milestone charts for achondroplasia. Expect motor delay but not
social or cognitive delay .
6. Watch for low thoracic or high lumbar gibbus (posterior angulation
or kyphosis) associated with truncal weakness. It is recommended
that parents avoid carrying a child with achondroplasia in curled-up
positions. Certain types of child carriers, swingomatics, jolly
jumpers, and umbrella strollers tend to increase risk for gibbus.
Unsupported sitting should be avoided . Parents should be
instructed to provide back support during the first year of life.
7. External rotation of the hips is frequently present and usually
spontaneously disappears when the child begins to bear weight.
This finding does not require bracing .
8. Check for serous otitis media. Review risk at 6 to 12 months.
9. Arrange sleep studies if any sign of respiratory compromise
or delay in developmental milestones is present.
10. Refer the infant to a pediatric neurologist or pediatric
neurosurgeon for reflex asymmetry, extreme hypotonia, early hand
preference, or excessive head growth [5, 17].
11. Consider magnetic resonance imaging or computed tomography
of the foramen magnum region for a severely hypotonic infant or
one who has signs of cord compression. Magnetic resonance imaging
should include the base of the skull as well as the ventricles
and spinal cord [20, 21].
12. Discuss filing for Supplemental Security Income benefits
1. Review the personal support available to the family.
2. Review contact with support groups.
3. Observe the emotional status of parents and intrafamily relationships.
4. Discuss early intervention services and the importance of
normal socializing experiences with other children.
5. Ask the parents if they have educated their family members
about achondroplasia; discuss sibling adjustment.
6. Review the increased risk of serous otitis media because of
short eustachian tubes. Indicate that an ear examination is needed
with any upper respiratory tract infection.
7. Avoid infant carriers that curl up the infant. This does not
apply to car safety seats, which should always be used during