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From 1 month to 1 year - infancy

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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 [7].

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 [12]. 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 [19].

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 as appropriate.

Anticipatory guidance
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 automobile travel.

 

short limb dwarfism

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